Canonical Allele Identifier: CA340644259

Gene: PGM1

Linked Data

• dbSNP Id: rs1233018555
• gnomAD v2: 1-64089394-C-T
• gnomAD v4: 1-63623723-C-T
• MyVariant Identifiers: chr1:g.64089394C>T (hg19) ; chr1:g.63623723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623723C>T , CM000663.2:g.63623723C>T	GRCh38
NC_000001.10:g.64089394C>T , CM000663.1:g.64089394C>T	GRCh37
NC_000001.9:g.63861982C>T	NCBI36
NG_016966.1:g.35448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5702C>T MANE Select	ENSP00000360125.3:n.247-5702C>T
ENST00000650546.1:c.247-5702C>T	ENSP00000497812.1:n.247-5702C>T
ENST00000371083.4:c.263C>T	ENSP00000360124.4:p.Ala88Val
ENST00000371084.7:c.247-5702C>T	ENSP00000360125.3:n.247-5702C>T
ENST00000540265.5:c.-345-5702C>T	ENSP00000443449.1:n.-345-5702C>T
NM_001172818.1:c.263C>T	NP_001166289.1:p.Ala88Val
NM_001172819.1:c.-345-5702C>T	NP_001166290.1:n.-345-5702C>T
NM_002633.2:c.247-5702C>T	NP_002624.2:n.247-5702C>T
NM_002633.3:c.247-5702C>T MANE Select	NP_002624.2:n.247-5702C>T
NM_001172819.2:c.-345-5702C>T	NP_001166290.1:n.-345-5702C>T