Canonical Allele Identifier: CA418198847

Gene: PGM1

Linked Data

• gnomAD v4: 1-63651705-C-T
• MyVariant Identifiers: chr1:g.64117376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63651705C>T , CM000663.2:g.63651705C>T	GRCh38
NC_000001.10:g.64117376C>T , CM000663.1:g.64117376C>T	GRCh37
NC_000001.9:g.63889964C>T	NCBI36
NG_016966.1:g.63430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1317C>T MANE Select	ENSP00000360125.3:p.Asn439=
ENST00000650546.1:c.1317C>T	ENSP00000497812.1:p.Asn439=
ENST00000371083.4:c.1371C>T	ENSP00000360124.4:p.Asn457=
ENST00000371084.7:c.1317C>T	ENSP00000360125.3:p.Asn439=
ENST00000483707.1:n.351C>T
ENST00000540265.5:c.726C>T	ENSP00000443449.1:p.Asn242=
NM_001172818.1:c.1371C>T	NP_001166289.1:p.Asn457=
NM_001172819.1:c.726C>T	NP_001166290.1:p.Asn242=
NM_002633.2:c.1317C>T	NP_002624.2:p.Asn439=
NM_002633.3:c.1317C>T MANE Select	NP_002624.2:p.Asn439=
NM_001172819.2:c.726C>T	NP_001166290.1:p.Asn242=