SNP Links for Protein (Select 13540559) - SNP

Links from Protein

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Select item 14903304661.

rs1490330466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45804851 (GRCh38)
19:46308109 (GRCh37)
Canonical SPDI:: NC_000019.10:45804850:T:C
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.45804851T>C, NC_000019.9:g.46308109T>C, NM_030785.4:c.1054A>G, NM_030785.3:c.1054A>G, XM_011527351.3:c.1054A>G, XM_011527351.2:c.1054A>G, XM_011527351.1:c.1054A>G, NP_110412.1:p.Lys352Glu, XP_011525653.1:p.Lys352Glu

Select item 14901465582.

rs1490146558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45802201 (GRCh38)
19:46305459 (GRCh37)
Canonical SPDI:: NC_000019.10:45802200:C:T
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45802201C>T, NC_000019.9:g.46305459C>T, NM_030785.4:c.1717G>A, NM_030785.3:c.1717G>A, XM_011527351.3:c.1717G>A, XM_011527351.2:c.1717G>A, XM_011527351.1:c.1717G>A, NP_110412.1:p.Glu573Lys, XP_011525653.1:p.Glu573Lys

Select item 14890267993.

rs1489026799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45804377 (GRCh38)
19:46307635 (GRCh37)
Canonical SPDI:: NC_000019.10:45804376:C:T
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45804377C>T, NC_000019.9:g.46307635C>T, NM_030785.4:c.1528G>A, NM_030785.3:c.1528G>A, XM_011527351.3:c.1528G>A, XM_011527351.2:c.1528G>A, XM_011527351.1:c.1528G>A, NP_110412.1:p.Glu510Lys, XP_011525653.1:p.Glu510Lys

Select item 14855508114.

rs1485550811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45815018 (GRCh38)
19:46318276 (GRCh37)
Canonical SPDI:: NC_000019.10:45815017:G:A
Gene:: SYMPK (Varview), RSPH6A (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.45815018G>A, NC_000019.9:g.46318276G>A, NM_030785.4:c.159C>T, NM_030785.3:c.159C>T, XM_011527351.3:c.159C>T, XM_011527351.2:c.159C>T, XM_011527351.1:c.159C>T

Select item 14848200255.

rs1484820025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45815032 (GRCh38)
19:46318290 (GRCh37)
Canonical SPDI:: NC_000019.10:45815031:C:T
Gene:: SYMPK (Varview), RSPH6A (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.45815032C>T, NC_000019.9:g.46318290C>T, NM_030785.4:c.145G>A, NM_030785.3:c.145G>A, XM_011527351.3:c.145G>A, XM_011527351.2:c.145G>A, XM_011527351.1:c.145G>A, NP_110412.1:p.Asp49Asn, XP_011525653.1:p.Asp49Asn

Select item 14842323116.

rs1484232311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45804509 (GRCh38)
19:46307767 (GRCh37)
Canonical SPDI:: NC_000019.10:45804508:G:A
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45804509G>A, NC_000019.9:g.46307767G>A, NM_030785.4:c.1396C>T, NM_030785.3:c.1396C>T, XM_011527351.3:c.1396C>T, XM_011527351.2:c.1396C>T, XM_011527351.1:c.1396C>T, NP_110412.1:p.Pro466Ser, XP_011525653.1:p.Pro466Ser

Select item 14832787807.

rs1483278780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45810651 (GRCh38)
19:46313909 (GRCh37)
Canonical SPDI:: NC_000019.10:45810650:G:C
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45810651G>C, NC_000019.9:g.46313909G>C, NM_030785.4:c.840C>G, NM_030785.3:c.840C>G, XM_011527351.3:c.840C>G, XM_011527351.2:c.840C>G, XM_011527351.1:c.840C>G

Select item 14829103758.

rs1482910375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCTGAGAAGTCCTCCGGCC [Show Flanks]
Chromosome:: 19:45815107 (GRCh38)
19:46318366 (GRCh37)
Canonical SPDI:: NC_000019.10:45815107:GGCCTGAGAAGTCCTCCGGCC:GGCCTGAGAAGTCCTCCGGCCGGCCTGAGAAGTCCTCCGGCC
Gene:: SYMPK (Varview), RSPH6A (Varview)
Functional Consequence:: inframe_insertion,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGCCTGAGAAGTCCTCCGGCCGGCCTGAGAAGTCCTCCGGCC=0./0 (ALFA)
GGCCTGAGAAGTCCTCCGGCC=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45815108_45815128dup, NC_000019.9:g.46318366_46318386dup, NM_030785.4:c.49_69dup, NM_030785.3:c.49_69dup, XM_011527351.3:c.49_69dup, XM_011527351.2:c.49_69dup, XM_011527351.1:c.49_69dup, NP_110412.1:p.Gly17_Ala23dup, XP_011525653.1:p.Gly17_Ala23dup

Select item 14817638339.

rs1481763833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45814559 (GRCh38)
19:46317817 (GRCh37)
Canonical SPDI:: NC_000019.10:45814558:C:T
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000044/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45814559C>T, NC_000019.9:g.46317817C>T, NM_030785.4:c.618G>A, NM_030785.3:c.618G>A, XM_011527351.3:c.618G>A, XM_011527351.2:c.618G>A, XM_011527351.1:c.618G>A

Select item 148075261610.

rs1480752616 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:45814751 (GRCh38)
19:46318010 (GRCh37)
Canonical SPDI:: NC_000019.10:45814751:GGGGG:GGGGGG
Gene:: RSPH6A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45814756dup, NC_000019.9:g.46318014dup, NM_030785.4:c.425dup, NM_030785.3:c.425dup, XM_011527351.3:c.425dup, XM_011527351.2:c.425dup, XM_011527351.1:c.425dup, NP_110412.1:p.Val143fs, XP_011525653.1:p.Val143fs

Select item 148000070811.

rs1480000708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45802139 (GRCh38)
19:46305397 (GRCh37)
Canonical SPDI:: NC_000019.10:45802138:C:G,NC_000019.10:45802138:C:T
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.45802139C>G, NC_000019.10:g.45802139C>T, NC_000019.9:g.46305397C>G, NC_000019.9:g.46305397C>T, NM_030785.4:c.1779G>C, NM_030785.4:c.1779G>A, NM_030785.3:c.1779G>C, NM_030785.3:c.1779G>A, XM_011527351.3:c.1779G>C, XM_011527351.3:c.1779G>A, XM_011527351.2:c.1779G>C, XM_011527351.2:c.1779G>A, XM_011527351.1:c.1779G>C, XM_011527351.1:c.1779G>A

Select item 147881349512.

rs1478813495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:45804602 (GRCh38)
19:46307860 (GRCh37)
Canonical SPDI:: NC_000019.10:45804601:C:A
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45804602C>A, NC_000019.9:g.46307860C>A, NM_030785.4:c.1303G>T, NM_030785.3:c.1303G>T, XM_011527351.3:c.1303G>T, XM_011527351.2:c.1303G>T, XM_011527351.1:c.1303G>T, NP_110412.1:p.Gly435Cys, XP_011525653.1:p.Gly435Cys

Select item 147267516213.

rs1472675162 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCAGGTCCTCCTCCTCCT [Show Flanks]
Chromosome:: 19:45802209 (GRCh38)
19:46305468 (GRCh37)
Canonical SPDI:: NC_000019.10:45802209::TCAGGTCCTCCTCCTCCT
Gene:: RSPH6A (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCAGGTCCTCCTCCTCCT=0./0 (ALFA)
HGVS:: NC_000019.10:g.45802209_45802210insTCAGGTCCTCCTCCTCCT, NC_000019.9:g.46305467_46305468insTCAGGTCCTCCTCCTCCT, NM_030785.4:c.1708_1709insAGGAGGAGGAGGACCTGA, NM_030785.3:c.1708_1709insAGGAGGAGGAGGACCTGA, XM_011527351.3:c.1708_1709insAGGAGGAGGAGGACCTGA, XM_011527351.2:c.1708_1709insAGGAGGAGGAGGACCTGA, XM_011527351.1:c.1708_1709insAGGAGGAGGAGGACCTGA, NP_110412.1:p.Gly570delinsGluGluGluGluAspLeuArg, XP_011525653.1:p.Gly570delinsGluGluGluGluAspLeuArg

Select item 147183448714.

rs1471834487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45804756 (GRCh38)
19:46308014 (GRCh37)
Canonical SPDI:: NC_000019.10:45804755:G:A
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45804756G>A, NC_000019.9:g.46308014G>A, NM_030785.4:c.1149C>T, NM_030785.3:c.1149C>T, XM_011527351.3:c.1149C>T, XM_011527351.2:c.1149C>T, XM_011527351.1:c.1149C>T

Select item 147046150515.

rs1470461505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45796061 (GRCh38)
19:46299319 (GRCh37)
Canonical SPDI:: NC_000019.10:45796060:G:A
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45796061G>A, NC_000019.9:g.46299319G>A, NM_030785.4:c.1962C>T, NM_030785.3:c.1962C>T, XM_011527351.3:c.*37C>T, XM_011527351.2:c.*37C>T, XM_011527351.1:c.*37C>T

Select item 146964613816.

rs1469646138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45814943 (GRCh38)
19:46318201 (GRCh37)
Canonical SPDI:: NC_000019.10:45814942:C:T
Gene:: SYMPK (Varview), RSPH6A (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.45814943C>T, NC_000019.9:g.46318201C>T, NM_030785.4:c.234G>A, NM_030785.3:c.234G>A, XM_011527351.3:c.234G>A, XM_011527351.2:c.234G>A, XM_011527351.1:c.234G>A

Select item 146897085817.

rs1468970858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45814568 (GRCh38)
19:46317826 (GRCh37)
Canonical SPDI:: NC_000019.10:45814567:C:T
Gene:: RSPH6A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45814568C>T, NC_000019.9:g.46317826C>T, NM_030785.4:c.609G>A, NM_030785.3:c.609G>A, XM_011527351.3:c.609G>A, XM_011527351.2:c.609G>A, XM_011527351.1:c.609G>A

Select item 146868222418.

rs1468682224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45814964 (GRCh38)
19:46318222 (GRCh37)
Canonical SPDI:: NC_000019.10:45814963:C:T
Gene:: SYMPK (Varview), RSPH6A (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45814964C>T, NC_000019.9:g.46318222C>T, NM_030785.4:c.213G>A, NM_030785.3:c.213G>A, XM_011527351.3:c.213G>A, XM_011527351.2:c.213G>A, XM_011527351.1:c.213G>A, NP_110412.1:p.Met71Ile, XP_011525653.1:p.Met71Ile

Select item 146764704619.

rs1467647046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45814816 (GRCh38)
19:46318074 (GRCh37)
Canonical SPDI:: NC_000019.10:45814815:G:A
Gene:: RSPH6A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45814816G>A, NC_000019.9:g.46318074G>A, NM_030785.4:c.361C>T, NM_030785.3:c.361C>T, XM_011527351.3:c.361C>T, XM_011527351.2:c.361C>T, XM_011527351.1:c.361C>T, NP_110412.1:p.Gln121Ter, XP_011525653.1:p.Gln121Ter

Select item 146750294920.

rs1467502949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:45802202 (GRCh38)
19:46305460 (GRCh37)
Canonical SPDI:: NC_000019.10:45802201:C:A,NC_000019.10:45802201:C:G
Gene:: RSPH6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.45802202C>A, NC_000019.10:g.45802202C>G, NC_000019.9:g.46305460C>A, NC_000019.9:g.46305460C>G, NM_030785.4:c.1716G>T, NM_030785.4:c.1716G>C, NM_030785.3:c.1716G>T, NM_030785.3:c.1716G>C, XM_011527351.3:c.1716G>T, XM_011527351.3:c.1716G>C, XM_011527351.2:c.1716G>T, XM_011527351.2:c.1716G>C, XM_011527351.1:c.1716G>T, XM_011527351.1:c.1716G>C, NP_110412.1:p.Glu572Asp, NP_110412.1:p.Glu572Asp, XP_011525653.1:p.Glu572Asp, XP_011525653.1:p.Glu572Asp

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