Canonical Allele Identifier: CA389678831

Gene: PYGL

Linked Data

• dbSNP Id: rs2142781744
• MyVariant Identifiers: chr14:g.51372156A>C (hg19) ; chr14:g.50905438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905438A>C , CM000676.2:g.50905438A>C	GRCh38
NC_000014.8:g.51372156A>C , CM000676.1:g.51372156A>C	GRCh37
NC_000014.7:g.50441906A>C	NCBI36
NG_012796.1:g.44093T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2498T>G MANE Select	ENSP00000216392.7:p.Leu833Arg
ENST00000216392.7:c.2498T>G	ENSP00000216392.7:p.Leu833Arg
ENST00000532462.5:c.2379+2833T>G	ENSP00000431657.1:n.2379+2833T>G
ENST00000544180.6:c.2396T>G	ENSP00000443787.1:p.Leu799Arg
NM_001163940.1:c.2396T>G	NP_001157412.1:p.Leu799Arg
NM_002863.4:c.2498T>G	NP_002854.3:p.Leu833Arg
NM_002863.5:c.2498T>G MANE Select	NP_002854.3:p.Leu833Arg
NM_001163940.2:c.2396T>G	NP_001157412.1:p.Leu799Arg