Canonical Allele Identifier: CA656114624

Gene: PYGL

Linked Data

• COSMIC: COSN20078112

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905375dup , CM000676.2:g.50905375dup	GRCh38
NC_000014.8:g.51372093dup , CM000676.1:g.51372093dup	GRCh37
NC_000014.7:g.50441843dup	NCBI36
NG_012796.1:g.44156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*17dup MANE Select	ENSP00000216392.7:n.*17dup
ENST00000216392.7:c.*17dup	ENSP00000216392.7:n.*17dup
ENST00000532462.5:c.2379+2896dup	ENSP00000431657.1:n.2379+2896dup
ENST00000544180.6:c.*17dup	ENSP00000443787.1:n.*17dup
NM_001163940.1:c.*17dup	NP_001157412.1:n.*17dup
NM_002863.4:c.*17dup	NP_002854.3:n.*17dup
NM_002863.5:c.*17dup MANE Select	NP_002854.3:n.*17dup
NM_001163940.2:c.*17dup	NP_001157412.1:n.*17dup