Canonical Allele Identifier: CA7183245

Gene: PYGL

Linked Data

• dbSNP Id: rs772998983
• ExAC: 14:51376761 TC / T
• gnomAD v2: 14-51376761-TC-T
• MyVariant Identifiers: chr14:g.51376762del (hg19) ; chr14:g.50910044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910047del , CM000676.2:g.50910047del	GRCh38
NC_000014.8:g.51376765del , CM000676.1:g.51376765del	GRCh37
NC_000014.7:g.50446515del	NCBI36
NG_012796.1:g.39487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2028del MANE Select	ENSP00000216392.7:p.Thr677GlnfsTer4
ENST00000216392.7:c.2028del	ENSP00000216392.7:p.Thr677GlnfsTer4
ENST00000532107.2:n.201del
ENST00000532462.5:c.2028del	ENSP00000431657.1:p.Thr677GlnfsTer4
ENST00000544180.6:c.1926del	ENSP00000443787.1:p.Thr643GlnfsTer4
NM_001163940.1:c.1926del	NP_001157412.1:p.Thr643GlnfsTer4
NM_002863.4:c.2028del	NP_002854.3:p.Thr677GlnfsTer4
NM_002863.5:c.2028del MANE Select	NP_002854.3:p.Thr677GlnfsTer4
NM_001163940.2:c.1926del	NP_001157412.1:p.Thr643GlnfsTer4