Canonical Allele Identifier: CA340645438

Gene: PGM1

Linked Data

• gnomAD v4: 1-63629428-G-C
• MyVariant Identifiers: chr1:g.64095099G>C (hg19) ; chr1:g.63629428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629428G>C , CM000663.2:g.63629428G>C	GRCh38
NC_000001.10:g.64095099G>C , CM000663.1:g.64095099G>C	GRCh37
NC_000001.9:g.63867687G>C	NCBI36
NG_016966.1:g.41153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.250G>C MANE Select	ENSP00000360125.3:p.Gly84Arg
ENST00000650546.1:c.250G>C	ENSP00000497812.1:p.Gly84Arg
ENST00000371083.4:c.304G>C	ENSP00000360124.4:p.Gly102Arg
ENST00000371084.7:c.250G>C	ENSP00000360125.3:p.Gly84Arg
ENST00000540265.5:c.-342G>C	ENSP00000443449.1:n.-342G>C
NM_001172818.1:c.304G>C	NP_001166289.1:p.Gly102Arg
NM_001172819.1:c.-342G>C	NP_001166290.1:n.-342G>C
NM_002633.2:c.250G>C	NP_002624.2:p.Gly84Arg
NM_002633.3:c.250G>C MANE Select	NP_002624.2:p.Gly84Arg
NM_001172819.2:c.-342G>C	NP_001166290.1:n.-342G>C