Canonical Allele Identifier: CA2136415255

Gene: PYGL

Linked Data

• dbSNP Id: rs1207712805

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910354A>C , CM000676.2:g.50910354A>C	GRCh38
NC_000014.8:g.51377072A>C , CM000676.1:g.51377072A>C	GRCh37
NC_000014.7:g.50446822A>C	NCBI36
NG_012796.1:g.39177T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-252T>G MANE Select	ENSP00000216392.7:n.1970-252T>G
ENST00000216392.7:c.1970-252T>G	ENSP00000216392.7:n.1970-252T>G
ENST00000532107.2:n.143-252T>G
ENST00000532462.5:c.1970-252T>G	ENSP00000431657.1:n.1970-252T>G
ENST00000544180.6:c.1868-252T>G	ENSP00000443787.1:n.1868-252T>G
NM_001163940.1:c.1868-252T>G	NP_001157412.1:n.1868-252T>G
NM_002863.4:c.1970-252T>G	NP_002854.3:n.1970-252T>G
NM_002863.5:c.1970-252T>G MANE Select	NP_002854.3:n.1970-252T>G
NM_001163940.2:c.1868-252T>G	NP_001157412.1:n.1868-252T>G