Canonical Allele Identifier: CA340638384

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114279T>G (hg19) ; chr1:g.63648608T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648608T>G , CM000663.2:g.63648608T>G	GRCh38
NC_000001.10:g.64114279T>G , CM000663.1:g.64114279T>G	GRCh37
NC_000001.9:g.63886867T>G	NCBI36
NG_016966.1:g.60333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1236T>G MANE Select	ENSP00000360125.3:p.Ile412Met
ENST00000650546.1:c.1236T>G	ENSP00000497812.1:p.Ile412Met
ENST00000371083.4:c.1290T>G	ENSP00000360124.4:p.Ile430Met
ENST00000371084.7:c.1236T>G	ENSP00000360125.3:p.Ile412Met
ENST00000540265.5:c.645T>G	ENSP00000443449.1:p.Ile215Met
NM_001172818.1:c.1290T>G	NP_001166289.1:p.Ile430Met
NM_001172819.1:c.645T>G	NP_001166290.1:p.Ile215Met
NM_002633.2:c.1236T>G	NP_002624.2:p.Ile412Met
NM_002633.3:c.1236T>G MANE Select	NP_002624.2:p.Ile412Met
NM_001172819.2:c.645T>G	NP_001166290.1:p.Ile215Met