Canonical Allele Identifier: CA340638451

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114308G>T (hg19) ; chr1:g.63648637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648637G>T , CM000663.2:g.63648637G>T	GRCh38
NC_000001.10:g.64114308G>T , CM000663.1:g.64114308G>T	GRCh37
NC_000001.9:g.63886896G>T	NCBI36
NG_016966.1:g.60362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1265G>T MANE Select	ENSP00000360125.3:p.Arg422Leu
ENST00000650546.1:c.1265G>T	ENSP00000497812.1:p.Arg422Leu
ENST00000371083.4:c.1319G>T	ENSP00000360124.4:p.Arg440Leu
ENST00000371084.7:c.1265G>T	ENSP00000360125.3:p.Arg422Leu
ENST00000540265.5:c.674G>T	ENSP00000443449.1:p.Arg225Leu
NM_001172818.1:c.1319G>T	NP_001166289.1:p.Arg440Leu
NM_001172819.1:c.674G>T	NP_001166290.1:p.Arg225Leu
NM_002633.2:c.1265G>T	NP_002624.2:p.Arg422Leu
NM_002633.3:c.1265G>T MANE Select	NP_002624.2:p.Arg422Leu
NM_001172819.2:c.674G>T	NP_001166290.1:p.Arg225Leu