Canonical Allele Identifier: CA889499

Gene: PGM1

Linked Data

• dbSNP Id: rs766143717
• ExAC: 1:64095112 T / C
• gnomAD v2: 1-64095112-T-C
• gnomAD v4: 1-63629441-T-C
• MyVariant Identifiers: chr1:g.64095112T>C (hg19) ; chr1:g.63629441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629441T>C , CM000663.2:g.63629441T>C	GRCh38
NC_000001.10:g.64095112T>C , CM000663.1:g.64095112T>C	GRCh37
NC_000001.9:g.63867700T>C	NCBI36
NG_016966.1:g.41166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.263T>C MANE Select	ENSP00000360125.3:p.Ile88Thr
ENST00000650546.1:c.263T>C	ENSP00000497812.1:p.Ile88Thr
ENST00000371083.4:c.317T>C	ENSP00000360124.4:p.Ile106Thr
ENST00000371084.7:c.263T>C	ENSP00000360125.3:p.Ile88Thr
ENST00000540265.5:c.-329T>C	ENSP00000443449.1:n.-329T>C
NM_001172818.1:c.317T>C	NP_001166289.1:p.Ile106Thr
NM_001172819.1:c.-329T>C	NP_001166290.1:n.-329T>C
NM_002633.2:c.263T>C	NP_002624.2:p.Ile88Thr
NM_002633.3:c.263T>C MANE Select	NP_002624.2:p.Ile88Thr
NM_001172819.2:c.-329T>C	NP_001166290.1:n.-329T>C