Canonical Allele Identifier: CA889480

Gene: PGM1

Linked Data

• dbSNP Id: rs755982486
• ExAC: 1:64089452 G / C
• gnomAD v2: 1-64089452-G-C
• gnomAD v3: 1-63623781-G-C
• gnomAD v4: 1-63623781-G-C
• MyVariant Identifiers: chr1:g.64089452G>C (hg19) ; chr1:g.63623781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623781G>C , CM000663.2:g.63623781G>C	GRCh38
NC_000001.10:g.64089452G>C , CM000663.1:g.64089452G>C	GRCh37
NC_000001.9:g.63862040G>C	NCBI36
NG_016966.1:g.35506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5644G>C MANE Select	ENSP00000360125.3:n.247-5644G>C
ENST00000650546.1:c.247-5644G>C	ENSP00000497812.1:n.247-5644G>C
ENST00000371083.4:c.300+21G>C	ENSP00000360124.4:n.300+21G>C
ENST00000371084.7:c.247-5644G>C	ENSP00000360125.3:n.247-5644G>C
ENST00000540265.5:c.-345-5644G>C	ENSP00000443449.1:n.-345-5644G>C
NM_001172818.1:c.300+21G>C	NP_001166289.1:n.300+21G>C
NM_001172819.1:c.-345-5644G>C	NP_001166290.1:n.-345-5644G>C
NM_002633.2:c.247-5644G>C	NP_002624.2:n.247-5644G>C
NM_002633.3:c.247-5644G>C MANE Select	NP_002624.2:n.247-5644G>C
NM_001172819.2:c.-345-5644G>C	NP_001166290.1:n.-345-5644G>C