Canonical Allele Identifier: CA7183262

Gene: PYGL

Linked Data

• dbSNP Id: rs762756014
• ExAC: 14:51376838 TA / T
• gnomAD v2: 14-51376838-TA-T
• gnomAD v3: 14-50910120-TA-T
• gnomAD v4: 14-50910120-TA-T
• MyVariant Identifiers: chr14:g.51376839del (hg19) ; chr14:g.50910121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910124del , CM000676.2:g.50910124del	GRCh38
NC_000014.8:g.51376842del , CM000676.1:g.51376842del	GRCh37
NC_000014.7:g.50446592del	NCBI36
NG_012796.1:g.39410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-19del MANE Select	ENSP00000216392.7:n.1970-19del
ENST00000216392.7:c.1970-19del	ENSP00000216392.7:n.1970-19del
ENST00000532107.2:n.143-19del
ENST00000532462.5:c.1970-19del	ENSP00000431657.1:n.1970-19del
ENST00000544180.6:c.1868-19del	ENSP00000443787.1:n.1868-19del
NM_001163940.1:c.1868-19del	NP_001157412.1:n.1868-19del
NM_002863.4:c.1970-19del	NP_002854.3:n.1970-19del
NM_002863.5:c.1970-19del MANE Select	NP_002854.3:n.1970-19del
NM_001163940.2:c.1868-19del	NP_001157412.1:n.1868-19del