Canonical Allele Identifier: CA340646083

Gene: PGM1

Linked Data

• gnomAD v4: 1-63629528-G-C
• MyVariant Identifiers: chr1:g.64095199G>C (hg19) ; chr1:g.63629528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629528G>C , CM000663.2:g.63629528G>C	GRCh38
NC_000001.10:g.64095199G>C , CM000663.1:g.64095199G>C	GRCh37
NC_000001.9:g.63867787G>C	NCBI36
NG_016966.1:g.41253G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.350G>C MANE Select	ENSP00000360125.3:p.Ser117Thr
ENST00000650546.1:c.350G>C	ENSP00000497812.1:p.Ser117Thr
ENST00000371083.4:c.404G>C	ENSP00000360124.4:p.Ser135Thr
ENST00000371084.7:c.350G>C	ENSP00000360125.3:p.Ser117Thr
ENST00000540265.5:c.-242G>C	ENSP00000443449.1:n.-242G>C
NM_001172818.1:c.404G>C	NP_001166289.1:p.Ser135Thr
NM_001172819.1:c.-242G>C	NP_001166290.1:n.-242G>C
NM_002633.2:c.350G>C	NP_002624.2:p.Ser117Thr
NM_002633.3:c.350G>C MANE Select	NP_002624.2:p.Ser117Thr
NM_001172819.2:c.-242G>C	NP_001166290.1:n.-242G>C