Canonical Allele Identifier: CA340645758

Gene: PGM1

Linked Data

• gnomAD v4: 1-63629487-T-G
• MyVariant Identifiers: chr1:g.64095158T>G (hg19) ; chr1:g.63629487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629487T>G , CM000663.2:g.63629487T>G	GRCh38
NC_000001.10:g.64095158T>G , CM000663.1:g.64095158T>G	GRCh37
NC_000001.9:g.63867746T>G	NCBI36
NG_016966.1:g.41212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.309T>G MANE Select	ENSP00000360125.3:p.Ile103Met
ENST00000650546.1:c.309T>G	ENSP00000497812.1:p.Ile103Met
ENST00000371083.4:c.363T>G	ENSP00000360124.4:p.Ile121Met
ENST00000371084.7:c.309T>G	ENSP00000360125.3:p.Ile103Met
ENST00000540265.5:c.-283T>G	ENSP00000443449.1:n.-283T>G
NM_001172818.1:c.363T>G	NP_001166289.1:p.Ile121Met
NM_001172819.1:c.-283T>G	NP_001166290.1:n.-283T>G
NM_002633.2:c.309T>G	NP_002624.2:p.Ile103Met
NM_002633.3:c.309T>G MANE Select	NP_002624.2:p.Ile103Met
NM_001172819.2:c.-283T>G	NP_001166290.1:n.-283T>G