Canonical Allele Identifier: CA174985
Gene: IMPG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162135
ClinVar RCV Id: RCV000149549 RCV001223494
dbSNP Id: rs367576664
ExAC: 6:76660584 G / A
gnomAD v2: 6-76660584-G-A
gnomAD v3: 6-75950867-G-A
gnomAD v4: 6-75950867-G-A
MyVariant Identifiers: chr6:g.76660584G>A (hg19) chr6:g.75950867G>A (hg38)
PubMed: PMID:23993198
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75950867G>A , CM000668.2:g.75950867G>A GRCh38
NC_000006.11:g.76660584G>A , CM000668.1:g.76660584G>A GRCh37
NC_000006.10:g.76717304G>A NCBI36
NG_041812.1:g.126812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369950.8:c.1519C>T MANE Select ENSP00000358966.3:p.Arg507Ter
ENST00000369950.7:c.1519C>T ENSP00000358966.3:p.Arg507Ter
ENST00000611179.4:c.1285C>T ENSP00000481913.1:p.Arg429Ter
NM_001282368.1:c.1285C>T NP_001269297.1:p.Arg429Ter
NM_001563.3:c.1519C>T NP_001554.2:p.Arg507Ter
NM_001563.4:c.1519C>T MANE Select NP_001554.2:p.Arg507Ter
NM_001282368.2:c.1285C>T NP_001269297.1:p.Arg429Ter
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Search 100 bp 3'