SNP Links for Protein (Select 58530876) - SNP

Links from Protein

Items: 1 to 20 of 1000

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Select item 14913737311.

rs1491373731 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:141906385 (GRCh38)
X:140994171 (GRCh37)
Canonical SPDI:: NC_000023.11:141906382:CACA:CA
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.00045/6 (TOMMO)
HGVS:: NC_000023.11:g.141906383CA[1], NC_000023.10:g.140994169CA[1], NG_015871.1:g.7528CA[1], NM_005462.5:c.981_982del, NM_005462.4:c.981_982del, XM_011531418.3:c.981_982del, XM_011531418.2:c.981_982del, XM_011531418.1:c.981_982del, NP_005453.2:p.His327fs, XP_011529720.1:p.His327fs

Select item 14911712082.

rs1491171208 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGTA [Show Flanks]
Chromosome:: X:141906383 (GRCh38)
X:140994170 (GRCh37)
Canonical SPDI:: NC_000023.11:141906383:A:AGAGTA
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: AGAGT=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.141906384AG[2]TA[1], NC_000023.10:g.140994170AG[2]TA[1], NG_015871.1:g.7529AG[2]TA[1], NM_005462.5:c.980_981insGAGTA, NM_005462.4:c.980_981insGAGTA, XM_011531418.3:c.980_981insGAGTA, XM_011531418.2:c.980_981insGAGTA, XM_011531418.1:c.980_981insGAGTA, NP_005453.2:p.His327fs, XP_011529720.1:p.His327fs

Select item 14910745053.

rs1491074505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGTA [Show Flanks]
Chromosome:: X:141906803 (GRCh38)
X:140994590 (GRCh37)
Canonical SPDI:: NC_000023.11:141906803:A:AGAGTA
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: AGAGT=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.141906804AG[2]TA[1], NC_000023.10:g.140994590AG[2]TA[1], NG_015871.1:g.7949AG[2]TA[1], NM_005462.5:c.1400_1401insGAGTA, NM_005462.4:c.1400_1401insGAGTA, XM_011531418.3:c.1400_1401insGAGTA, XM_011531418.2:c.1400_1401insGAGTA, XM_011531418.1:c.1400_1401insGAGTA, NP_005453.2:p.His467fs, XP_011529720.1:p.His467fs

Select item 14910436564.

rs1491043656 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTTCC [Show Flanks]
Chromosome:: X:141906040 (GRCh38)
X:140993827 (GRCh37)
Canonical SPDI:: NC_000023.11:141906040::CTTTTCC
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.141906040_141906041insCTTTTCC, NC_000023.10:g.140993826_140993827insCTTTTCC, NG_015871.1:g.7185_7186insCTTTTCC, NM_005462.5:c.636_637insCTTTTCC, NM_005462.4:c.636_637insCTTTTCC, XM_011531418.3:c.636_637insCTTTTCC, XM_011531418.2:c.636_637insCTTTTCC, XM_011531418.1:c.636_637insCTTTTCC, NP_005453.2:p.Ile213fs, XP_011529720.1:p.Ile213fs

Select item 14909253575.

rs1490925357 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGAT [Show Flanks]
Chromosome:: X:141906151 (GRCh38)
X:140993938 (GRCh37)
Canonical SPDI:: NC_000023.11:141906151::AGAT
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.141906151_141906152insAGAT, NC_000023.10:g.140993937_140993938insAGAT, NG_015871.1:g.7296_7297insAGAT, NM_005462.5:c.747_748insAGAT, NM_005462.4:c.747_748insAGAT, XM_011531418.3:c.747_748insAGAT, XM_011531418.2:c.747_748insAGAT, XM_011531418.1:c.747_748insAGAT, NP_005453.2:p.Gln250fs, XP_011529720.1:p.Gln250fs

Select item 14908475266.

rs1490847526 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGCTGGGAG>- [Show Flanks]
Chromosome:: X:141908489 (GRCh38)
X:140996275 (GRCh37)
Canonical SPDI:: NC_000023.11:141908487:GCGTGCTGGGAG:G
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.141908489_141908499del, NC_000023.10:g.140996275_140996285del, NG_015871.1:g.9634_9644del, NM_005462.5:c.3085_3095del, NM_005462.4:c.3085_3095del, XM_011531418.3:c.3085_3095del, XM_011531418.2:c.3085_3095del, XM_011531418.1:c.3085_3095del, NP_005453.2:p.Arg1029fs, XP_011529720.1:p.Arg1029fs

Select item 14905290767.

rs1490529076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:141906306 (GRCh38)
X:140994092 (GRCh37)
Canonical SPDI:: NC_000023.11:141906305:C:G
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.141906306C>G, NC_000023.10:g.140994092C>G, NG_015871.1:g.7451C>G, NM_005462.5:c.902C>G, NM_005462.4:c.902C>G, XM_011531418.3:c.902C>G, XM_011531418.2:c.902C>G, XM_011531418.1:c.902C>G, NP_005453.2:p.Ser301Cys, XP_011529720.1:p.Ser301Cys

Select item 14900364248.

rs1490036424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:141906460 (GRCh38)
X:140994246 (GRCh37)
Canonical SPDI:: NC_000023.11:141906459:T:C
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.141906460T>C, NC_000023.10:g.140994246T>C, NG_015871.1:g.7605T>C, NM_005462.5:c.1056T>C, NM_005462.4:c.1056T>C, XM_011531418.3:c.1056T>C, XM_011531418.2:c.1056T>C, XM_011531418.1:c.1056T>C

Select item 14889373259.

rs1488937325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:141907346 (GRCh38)
X:140995132 (GRCh37)
Canonical SPDI:: NC_000023.11:141907345:T:C
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00355/58 (ALFA)
C=0.00071/61 (GnomAD)
C=0.00108/14 (TOMMO)
C=0.01506/44 (KOREAN)
HGVS:: NC_000023.11:g.141907346T>C, NC_000023.10:g.140995132T>C, NG_015871.1:g.8491T>C, NM_005462.5:c.1942T>C, NM_005462.4:c.1942T>C, XM_011531418.3:c.1942T>C, XM_011531418.2:c.1942T>C, XM_011531418.1:c.1942T>C, NP_005453.2:p.Ser648Pro, XP_011529720.1:p.Ser648Pro

Select item 148641273110.

rs1486412731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:141906108 (GRCh38)
X:140993894 (GRCh37)
Canonical SPDI:: NC_000023.11:141906107:T:C,NC_000023.11:141906107:T:G
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.141906108T>C, NC_000023.11:g.141906108T>G, NC_000023.10:g.140993894T>C, NC_000023.10:g.140993894T>G, NG_015871.1:g.7253T>C, NG_015871.1:g.7253T>G, NM_005462.5:c.704T>C, NM_005462.5:c.704T>G, NM_005462.4:c.704T>C, NM_005462.4:c.704T>G, XM_011531418.3:c.704T>C, XM_011531418.3:c.704T>G, XM_011531418.2:c.704T>C, XM_011531418.2:c.704T>G, XM_011531418.1:c.704T>C, XM_011531418.1:c.704T>G, NP_005453.2:p.Ile235Thr, NP_005453.2:p.Ile235Ser, XP_011529720.1:p.Ile235Thr, XP_011529720.1:p.Ile235Ser

Select item 148562615611.

rs1485626156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:141906348 (GRCh38)
X:140994134 (GRCh37)
Canonical SPDI:: NC_000023.11:141906347:T:C
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.141906348T>C, NC_000023.10:g.140994134T>C, NG_015871.1:g.7493T>C, NM_005462.5:c.944T>C, NM_005462.4:c.944T>C, XM_011531418.3:c.944T>C, XM_011531418.2:c.944T>C, XM_011531418.1:c.944T>C, NP_005453.2:p.Leu315Ser, XP_011529720.1:p.Leu315Ser

Select item 148371162612.

rs1483711626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:141907162 (GRCh38)
X:140994948 (GRCh37)
Canonical SPDI:: NC_000023.11:141907161:G:A
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.141907162G>A, NC_000023.10:g.140994948G>A, NG_015871.1:g.8307G>A, NM_005462.5:c.1758G>A, NM_005462.4:c.1758G>A, XM_011531418.3:c.1758G>A, XM_011531418.2:c.1758G>A, XM_011531418.1:c.1758G>A

Select item 148267516813.

rs1482675168 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:141906678 (GRCh38)
X:140994464 (GRCh37)
Canonical SPDI:: NC_000023.11:141906677:A:
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00045/2 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.141906678del, NC_000023.10:g.140994464del, NG_015871.1:g.7823del, NM_005462.5:c.1274del, NM_005462.4:c.1274del, XM_011531418.3:c.1274del, XM_011531418.2:c.1274del, XM_011531418.1:c.1274del, NP_005453.2:p.Gln425fs, XP_011529720.1:p.Gln425fs

Select item 148243773114.

rs1482437731 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: X:141906387 (GRCh38)
X:140994173 (GRCh37)
Canonical SPDI:: NC_000023.11:141906386:GT:
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000023.11:g.141906387_141906388del, NC_000023.10:g.140994173_140994174del, NG_015871.1:g.7532_7533del, NM_005462.5:c.983_984del, NM_005462.4:c.983_984del, XM_011531418.3:c.983_984del, XM_011531418.2:c.983_984del, XM_011531418.1:c.983_984del, NP_005453.2:p.Ser328fs, XP_011529720.1:p.Ser328fs

Select item 148236563915.

rs1482365639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:141905918 (GRCh38)
X:140993704 (GRCh37)
Canonical SPDI:: NC_000023.11:141905917:T:G
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.141905918T>G, NC_000023.10:g.140993704T>G, NG_015871.1:g.7063T>G, NM_005462.5:c.514T>G, NM_005462.4:c.514T>G, XM_011531418.3:c.514T>G, XM_011531418.2:c.514T>G, XM_011531418.1:c.514T>G, NP_005453.2:p.Ser172Ala, XP_011529720.1:p.Ser172Ala

Select item 148217118516.

rs1482171185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:141908084 (GRCh38)
X:140995870 (GRCh37)
Canonical SPDI:: NC_000023.11:141908083:A:C
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.141908084A>C, NC_000023.10:g.140995870A>C, NG_015871.1:g.9229A>C, NM_005462.5:c.2680A>C, NM_005462.4:c.2680A>C, XM_011531418.3:c.2680A>C, XM_011531418.2:c.2680A>C, XM_011531418.1:c.2680A>C, NP_005453.2:p.Ser894Arg, XP_011529720.1:p.Ser894Arg

Select item 148194322617.

rs1481943226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:141908783 (GRCh38)
X:140996569 (GRCh37)
Canonical SPDI:: NC_000023.11:141908782:A:G
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.141908783A>G, NC_000023.10:g.140996569A>G, NG_015871.1:g.9928A>G, NM_005462.5:c.3379A>G, NM_005462.4:c.3379A>G, XM_011531418.3:c.3379A>G, XM_011531418.2:c.3379A>G, XM_011531418.1:c.3379A>G, NP_005453.2:p.Thr1127Ala, XP_011529720.1:p.Thr1127Ala

Select item 148186836518.

rs1481868365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:141906296 (GRCh38)
X:140994082 (GRCh37)
Canonical SPDI:: NC_000023.11:141906295:T:C
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.141906296T>C, NC_000023.10:g.140994082T>C, NG_015871.1:g.7441T>C, NM_005462.5:c.892T>C, NM_005462.4:c.892T>C, XM_011531418.3:c.892T>C, XM_011531418.2:c.892T>C, XM_011531418.1:c.892T>C, NP_005453.2:p.Phe298Leu, XP_011529720.1:p.Phe298Leu

Select item 148183883519.

rs1481838835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:141905788 (GRCh38)
X:140993574 (GRCh37)
Canonical SPDI:: NC_000023.11:141905787:G:C,NC_000023.11:141905787:G:T
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.141905788G>C, NC_000023.11:g.141905788G>T, NC_000023.10:g.140993574G>C, NC_000023.10:g.140993574G>T, NG_015871.1:g.6933G>C, NG_015871.1:g.6933G>T, NM_005462.5:c.384G>C, NM_005462.5:c.384G>T, NM_005462.4:c.384G>C, NM_005462.4:c.384G>T, XM_011531418.3:c.384G>C, XM_011531418.3:c.384G>T, XM_011531418.2:c.384G>C, XM_011531418.2:c.384G>T, XM_011531418.1:c.384G>C, XM_011531418.1:c.384G>T

Select item 148095462520.

rs1480954625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:141906425 (GRCh38)
X:140994211 (GRCh37)
Canonical SPDI:: NC_000023.11:141906424:C:T
Gene:: MAGEC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.141906425C>T, NC_000023.10:g.140994211C>T, NG_015871.1:g.7570C>T, NM_005462.5:c.1021C>T, NM_005462.4:c.1021C>T, XM_011531418.3:c.1021C>T, XM_011531418.2:c.1021C>T, XM_011531418.1:c.1021C>T, NP_005453.2:p.Pro341Ser, XP_011529720.1:p.Pro341Ser

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