Canonical Allele Identifier: CA389682096

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51376661A>C (hg19) ; chr14:g.50909943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909943A>C , CM000676.2:g.50909943A>C	GRCh38
NC_000014.8:g.51376661A>C , CM000676.1:g.51376661A>C	GRCh37
NC_000014.7:g.50446411A>C	NCBI36
NG_012796.1:g.39588T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2129T>G MANE Select	ENSP00000216392.7:p.Phe710Cys
ENST00000216392.7:c.2129T>G	ENSP00000216392.7:p.Phe710Cys
ENST00000532107.2:n.302T>G
ENST00000532462.5:c.2129T>G	ENSP00000431657.1:p.Phe710Cys
ENST00000544180.6:c.2027T>G	ENSP00000443787.1:p.Phe676Cys
NM_001163940.1:c.2027T>G	NP_001157412.1:p.Phe676Cys
NM_002863.4:c.2129T>G	NP_002854.3:p.Phe710Cys
NM_002863.5:c.2129T>G MANE Select	NP_002854.3:p.Phe710Cys
NM_001163940.2:c.2027T>G	NP_001157412.1:p.Phe676Cys