Canonical Allele Identifier: CA3898212

Gene: IMPG1

Linked Data

• ClinVar Variation Id: 438085
• ClinVar RCV Id: RCV000504831 ; RCV001226435
• dbSNP Id: rs144437882
• ExAC: 6:76713646 G / T
• gnomAD v2: 6-76713646-G-T
• gnomAD v3: 6-76003929-G-T
• gnomAD v4: 6-76003929-G-T
• MyVariant Identifiers: chr6:g.76713646G>T (hg19) ; chr6:g.76003929G>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.76003929G>T , CM000668.2:g.76003929G>T	GRCh38
NC_000006.11:g.76713646G>T , CM000668.1:g.76713646G>T	GRCh37
NC_000006.10:g.76770366G>T	NCBI36
NG_041812.1:g.73750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369950.8:c.1157C>A MANE Select	ENSP00000358966.3:p.Ala386Asp
ENST00000369950.7:c.1157C>A	ENSP00000358966.3:p.Ala386Asp
ENST00000611179.4:c.923C>A	ENSP00000481913.1:p.Ala308Asp
NM_001282368.1:c.923C>A	NP_001269297.1:p.Ala308Asp
NM_001563.3:c.1157C>A	NP_001554.2:p.Ala386Asp
NM_001563.4:c.1157C>A MANE Select	NP_001554.2:p.Ala386Asp
NM_001282368.2:c.923C>A	NP_001269297.1:p.Ala308Asp