Canonical Allele Identifier: CA614275199

Gene: PYGL

Linked Data

• dbSNP Id: rs1224200301
• gnomAD v2: 14-51372142-A-AT
• gnomAD v4: 14-50905424-A-AT
• MyVariant Identifiers: chr14:g.51372142_51372143insT (hg19) ; chr14:g.50905424_50905425insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905425dup , CM000676.2:g.50905425dup	GRCh38
NC_000014.8:g.51372143dup , CM000676.1:g.51372143dup	GRCh37
NC_000014.7:g.50441893dup	NCBI36
NG_012796.1:g.44106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2511dup MANE Select	ENSP00000216392.7:p.Ser838IlefsTer3
ENST00000216392.7:c.2511dup	ENSP00000216392.7:p.Ser838IlefsTer3
ENST00000532462.5:c.2379+2846dup	ENSP00000431657.1:n.2379+2846dup
ENST00000544180.6:c.2409dup	ENSP00000443787.1:p.Ser804IlefsTer3
NM_001163940.1:c.2409dup	NP_001157412.1:p.Ser804IlefsTer3
NM_002863.4:c.2511dup	NP_002854.3:p.Ser838IlefsTer3
NM_002863.5:c.2511dup MANE Select	NP_002854.3:p.Ser838IlefsTer3
NM_001163940.2:c.2409dup	NP_001157412.1:p.Ser804IlefsTer3