Canonical Allele Identifier: CA2575525097

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905303T>G , CM000676.2:g.50905303T>G	GRCh38
NC_000014.8:g.51372021T>G , CM000676.1:g.51372021T>G	GRCh37
NC_000014.7:g.50441771T>G	NCBI36
NG_012796.1:g.44228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*89A>C MANE Select	ENSP00000216392.7:n.*89A>C
ENST00000216392.7:c.*89A>C	ENSP00000216392.7:n.*89A>C
ENST00000532462.5:c.2379+2968A>C	ENSP00000431657.1:n.2379+2968A>C
ENST00000544180.6:c.*89A>C	ENSP00000443787.1:n.*89A>C
NM_001163940.1:c.*89A>C	NP_001157412.1:n.*89A>C
NM_002863.4:c.*89A>C	NP_002854.3:n.*89A>C
NM_002863.5:c.*89A>C MANE Select	NP_002854.3:n.*89A>C
NM_001163940.2:c.*89A>C	NP_001157412.1:n.*89A>C