Canonical Allele Identifier: CA340638574

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64117372C>T (hg19) ; chr1:g.63651701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63651701C>T , CM000663.2:g.63651701C>T	GRCh38
NC_000001.10:g.64117372C>T , CM000663.1:g.64117372C>T	GRCh37
NC_000001.9:g.63889960C>T	NCBI36
NG_016966.1:g.63426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1313C>T MANE Select	ENSP00000360125.3:p.Ala438Val
ENST00000650546.1:c.1313C>T	ENSP00000497812.1:p.Ala438Val
ENST00000371083.4:c.1367C>T	ENSP00000360124.4:p.Ala456Val
ENST00000371084.7:c.1313C>T	ENSP00000360125.3:p.Ala438Val
ENST00000483707.1:n.347C>T
ENST00000540265.5:c.722C>T	ENSP00000443449.1:p.Ala241Val
NM_001172818.1:c.1367C>T	NP_001166289.1:p.Ala456Val
NM_001172819.1:c.722C>T	NP_001166290.1:p.Ala241Val
NM_002633.2:c.1313C>T	NP_002624.2:p.Ala438Val
NM_002633.3:c.1313C>T MANE Select	NP_002624.2:p.Ala438Val
NM_001172819.2:c.722C>T	NP_001166290.1:p.Ala241Val