Canonical Allele Identifier: CA340638590

Gene: PGM1

Linked Data

• dbSNP Id: rs767573386
• gnomAD v2: 1-64117379-A-C
• MyVariant Identifiers: chr1:g.64117379A>C (hg19) ; chr1:g.63651708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63651708A>C , CM000663.2:g.63651708A>C	GRCh38
NC_000001.10:g.64117379A>C , CM000663.1:g.64117379A>C	GRCh37
NC_000001.9:g.63889967A>C	NCBI36
NG_016966.1:g.63433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1320A>C MANE Select	ENSP00000360125.3:p.Lys440Asn
ENST00000650546.1:c.1320A>C	ENSP00000497812.1:p.Lys440Asn
ENST00000371083.4:c.1374A>C	ENSP00000360124.4:p.Lys458Asn
ENST00000371084.7:c.1320A>C	ENSP00000360125.3:p.Lys440Asn
ENST00000483707.1:n.354A>C
ENST00000540265.5:c.729A>C	ENSP00000443449.1:p.Lys243Asn
NM_001172818.1:c.1374A>C	NP_001166289.1:p.Lys458Asn
NM_001172819.1:c.729A>C	NP_001166290.1:p.Lys243Asn
NM_002633.2:c.1320A>C	NP_002624.2:p.Lys440Asn
NM_002633.3:c.1320A>C MANE Select	NP_002624.2:p.Lys440Asn
NM_001172819.2:c.729A>C	NP_001166290.1:p.Lys243Asn