Canonical Allele Identifier: CA7183240

Gene: PYGL

Linked Data

• dbSNP Id: rs777189835
• ExAC: 14:51376739 A / G
• gnomAD v2: 14-51376739-A-G
• gnomAD v4: 14-50910021-A-G
• MyVariant Identifiers: chr14:g.51376739A>G (hg19) ; chr14:g.50910021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910021A>G , CM000676.2:g.50910021A>G	GRCh38
NC_000014.8:g.51376739A>G , CM000676.1:g.51376739A>G	GRCh37
NC_000014.7:g.50446489A>G	NCBI36
NG_012796.1:g.39510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2051T>C MANE Select	ENSP00000216392.7:p.Leu684Pro
ENST00000216392.7:c.2051T>C	ENSP00000216392.7:p.Leu684Pro
ENST00000532107.2:n.224T>C
ENST00000532462.5:c.2051T>C	ENSP00000431657.1:p.Leu684Pro
ENST00000544180.6:c.1949T>C	ENSP00000443787.1:p.Leu650Pro
NM_001163940.1:c.1949T>C	NP_001157412.1:p.Leu650Pro
NM_002863.4:c.2051T>C	NP_002854.3:p.Leu684Pro
NM_002863.5:c.2051T>C MANE Select	NP_002854.3:p.Leu684Pro
NM_001163940.2:c.1949T>C	NP_001157412.1:p.Leu650Pro