Canonical Allele Identifier: CA340647286

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63630043G>T , CM000663.2:g.63630043G>T	GRCh38
NC_000001.10:g.64095714G>T , CM000663.1:g.64095714G>T	GRCh37
NC_000001.9:g.63868302G>T	NCBI36
NG_016966.1:g.41768G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.511G>T MANE Select	NP_002624.2:p.Gly171Ter
ENST00000371084.8:c.511G>T MANE Select	ENSP00000360125.3:p.Gly171Ter
NM_001172818.1:c.565G>T	NP_001166289.1:p.Gly189Ter
NM_001172819.1:c.-81G>T	NP_001166290.1:n.-81G>T
NM_001172819.2:c.-81G>T	NP_001166290.1:n.-81G>T
NM_002633.2:c.511G>T	NP_002624.2:p.Gly171Ter
ENST00000371083.4:c.565G>T	ENSP00000360124.4:p.Gly189Ter
ENST00000371084.7:c.511G>T	ENSP00000360125.3:p.Gly171Ter
ENST00000540265.5:c.-81G>T	ENSP00000443449.1:n.-81G>T
ENST00000650546.1:c.511G>T	ENSP00000497812.1:p.Gly171Ter