ClinVar

NM_015047.3(EMC1):c.2826T>A (p.Ile942=)

Genes:

EMC1-AS1:EMC1 antisense RNA 1 [Gene - HGNC]
EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 19219459 (on Assembly GRCh38)
• Chr1: 19545953 (on Assembly GRCh37)

Preferred name:

NM_015047.3(EMC1):c.2826T>A (p.Ile942=)

HGVS:

• NC_000001.11:g.19219459A>T
• NG_032948.1:g.37101T>A
• NM_001271427.2:c.2823T>A
• NM_001271428.2:c.2823T>A
• NM_001271429.2:c.2760T>A
• NM_001375820.1:c.2835T>A
• NM_001375821.1:c.2832T>A
• NM_015047.3:c.2826T>AMANE SELECT
• NP_001258356.1:p.Ile941=
• NP_001258357.1:p.Ile941=
• NP_001258358.1:p.Ile920=
• NP_001362749.1:p.Ile945=
• NP_001362750.1:p.Ile944=
• NP_055862.1:p.Ile942=
• NC_000001.10:g.19545953A>T
• NC_000001.10:g.19545953A>T
• NM_015047.2:c.2826T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1363656925

NCBI 1000 Genomes Browser:

rs1363656925

Molecular consequence:

• NM_001271427.2:c.2823T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271428.2:c.2823T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271429.2:c.2760T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375820.1:c.2835T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375821.1:c.2832T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015047.3:c.2826T>A - synonymous variant - [Sequence Ontology: SO:0001819]