Canonical Allele Identifier: CA381169284

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518908T>G (hg19) ; chr11:g.64751436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751436T>G , CM000673.2:g.64751436T>G	GRCh38
NC_000011.9:g.64518908T>G , CM000673.1:g.64518908T>G	GRCh37
NC_000011.8:g.64275484T>G	NCBI36
NG_013018.1:g.14280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1858A>C MANE Select	ENSP00000164139.3:p.Ile620Leu
ENST00000164139.3:c.1858A>C	ENSP00000164139.3:p.Ile620Leu
ENST00000377432.7:c.1594A>C	ENSP00000366650.3:p.Ile532Leu
ENST00000462303.1:n.182A>C
NM_001164716.1:c.1594A>C	NP_001158188.1:p.Ile532Leu
NM_005609.2:c.1858A>C	NP_005600.1:p.Ile620Leu
NM_005609.3:c.1858A>C	NP_005600.1:p.Ile620Leu
NM_005609.4:c.1858A>C MANE Select	NP_005600.1:p.Ile620Leu