Canonical Allele Identifier: CA340645513

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64095113C>G (hg19) ; chr1:g.63629442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629442C>G , CM000663.2:g.63629442C>G	GRCh38
NC_000001.10:g.64095113C>G , CM000663.1:g.64095113C>G	GRCh37
NC_000001.9:g.63867701C>G	NCBI36
NG_016966.1:g.41167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.264C>G MANE Select	ENSP00000360125.3:p.Ile88Met
ENST00000650546.1:c.264C>G	ENSP00000497812.1:p.Ile88Met
ENST00000371083.4:c.318C>G	ENSP00000360124.4:p.Ile106Met
ENST00000371084.7:c.264C>G	ENSP00000360125.3:p.Ile88Met
ENST00000540265.5:c.-328C>G	ENSP00000443449.1:n.-328C>G
NM_001172818.1:c.318C>G	NP_001166289.1:p.Ile106Met
NM_001172819.1:c.-328C>G	NP_001166290.1:n.-328C>G
NM_002633.2:c.264C>G	NP_002624.2:p.Ile88Met
NM_002633.3:c.264C>G MANE Select	NP_002624.2:p.Ile88Met
NM_001172819.2:c.-328C>G	NP_001166290.1:n.-328C>G