Canonical Allele Identifier: CA381169505

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2678124
• ClinVar RCV Id: RCV003471760
• COSMIC: COSM6069931
• MyVariant Identifiers: chr11:g.64518939C>A (hg19) ; chr11:g.64751467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751467C>A , CM000673.2:g.64751467C>A	GRCh38
NC_000011.9:g.64518939C>A , CM000673.1:g.64518939C>A	GRCh37
NC_000011.8:g.64275515C>A	NCBI36
NG_013018.1:g.14249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1828-1G>T MANE Select	ENSP00000164139.3:n.1828-1G>T
ENST00000164139.3:c.1828-1G>T	ENSP00000164139.3:n.1828-1G>T
ENST00000377432.7:c.1564-1G>T	ENSP00000366650.3:n.1564-1G>T
ENST00000462303.1:n.152-1G>T
NM_001164716.1:c.1564-1G>T	NP_001158188.1:n.1564-1G>T
NM_005609.2:c.1828-1G>T	NP_005600.1:n.1828-1G>T
NM_005609.3:c.1828-1G>T	NP_005600.1:n.1828-1G>T
NM_005609.4:c.1828-1G>T MANE Select	NP_005600.1:n.1828-1G>T