ClinVar

NM_015047.3(EMC1):c.2964G>C (p.Leu988=)

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: 19219321 (on Assembly GRCh38)
• Chr1: 19545815 (on Assembly GRCh37)

Preferred name:

NM_015047.3(EMC1):c.2964G>C (p.Leu988=)

HGVS:

• NC_000001.11:g.19219321C>G
• NG_032948.1:g.37239G>C
• NM_001271427.2:c.2961G>C
• NM_001271428.2:c.2961G>C
• NM_001271429.2:c.2898G>C
• NM_001375820.1:c.2973G>C
• NM_001375821.1:c.2970G>C
• NM_015047.2:c.2964G>C
• NM_015047.3:c.2964G>CMANE SELECT
• NP_001258356.1:p.Leu987=
• NP_001258357.1:p.Leu987=
• NP_001258358.1:p.Leu966=
• NP_001362749.1:p.Leu991=
• NP_001362750.1:p.Leu990=
• NP_055862.1:p.Leu988=
• NC_000001.10:g.19545815C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001271427.2:c.2961G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271428.2:c.2961G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271429.2:c.2898G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375820.1:c.2973G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375821.1:c.2970G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015047.3:c.2964G>C - synonymous variant - [Sequence Ontology: SO:0001819]