Canonical Allele Identifier: CA381165490

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514771A>T (hg19) ; chr11:g.64747299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747299A>T , CM000673.2:g.64747299A>T	GRCh38
NC_000011.9:g.64514771A>T , CM000673.1:g.64514771A>T	GRCh37
NC_000011.8:g.64271347A>T	NCBI36
NG_007574.1:g.3158T>A , LRG_100:g.3158T>A
NG_013018.1:g.18417T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2237T>A MANE Select	ENSP00000164139.3:p.Leu746Gln
ENST00000164139.3:c.2237T>A	ENSP00000164139.3:p.Leu746Gln
ENST00000377432.7:c.1973T>A	ENSP00000366650.3:p.Leu658Gln
ENST00000483742.1:n.1590T>A
NM_001164716.1:c.1973T>A	NP_001158188.1:p.Leu658Gln
NM_005609.2:c.2237T>A	NP_005600.1:p.Leu746Gln
NM_005609.3:c.2237T>A	NP_005600.1:p.Leu746Gln
NM_005609.4:c.2237T>A MANE Select	NP_005600.1:p.Leu746Gln