Canonical Allele Identifier: CA381165501

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514772G>C (hg19) ; chr11:g.64747300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747300G>C , CM000673.2:g.64747300G>C	GRCh38
NC_000011.9:g.64514772G>C , CM000673.1:g.64514772G>C	GRCh37
NC_000011.8:g.64271348G>C	NCBI36
NG_007574.1:g.3157C>G , LRG_100:g.3157C>G
NG_013018.1:g.18416C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2236C>G MANE Select	ENSP00000164139.3:p.Leu746Val
ENST00000164139.3:c.2236C>G	ENSP00000164139.3:p.Leu746Val
ENST00000377432.7:c.1972C>G	ENSP00000366650.3:p.Leu658Val
ENST00000483742.1:n.1589C>G
NM_001164716.1:c.1972C>G	NP_001158188.1:p.Leu658Val
NM_005609.2:c.2236C>G	NP_005600.1:p.Leu746Val
NM_005609.3:c.2236C>G	NP_005600.1:p.Leu746Val
NM_005609.4:c.2236C>G MANE Select	NP_005600.1:p.Leu746Val