Canonical Allele Identifier: CA418207532

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64095110T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629439T>G , CM000663.2:g.63629439T>G	GRCh38
NC_000001.10:g.64095110T>G , CM000663.1:g.64095110T>G	GRCh37
NC_000001.9:g.63867698T>G	NCBI36
NG_016966.1:g.41164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.261T>G MANE Select	ENSP00000360125.3:p.Val87=
ENST00000650546.1:c.261T>G	ENSP00000497812.1:p.Val87=
ENST00000371083.4:c.315T>G	ENSP00000360124.4:p.Val105=
ENST00000371084.7:c.261T>G	ENSP00000360125.3:p.Val87=
ENST00000540265.5:c.-331T>G	ENSP00000443449.1:n.-331T>G
NM_001172818.1:c.315T>G	NP_001166289.1:p.Val105=
NM_001172819.1:c.-331T>G	NP_001166290.1:n.-331T>G
NM_002633.2:c.261T>G	NP_002624.2:p.Val87=
NM_002633.3:c.261T>G MANE Select	NP_002624.2:p.Val87=
NM_001172819.2:c.-331T>G	NP_001166290.1:n.-331T>G