Canonical Allele Identifier: CA2136438518

Gene: PYGL

Linked Data

• ClinVar Variation Id: 998112
• ClinVar RCV Id: RCV001293799
• dbSNP Id: rs2050731690

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944372dup , CM000676.2:g.50944372dup	GRCh38
NC_000014.8:g.51411090dup , CM000676.1:g.51411090dup	GRCh37
NC_000014.7:g.50480840dup	NCBI36
NG_012796.1:g.5160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.33dup MANE Select	ENSP00000216392.7:p.Arg12AlafsTer?
ENST00000216392.7:c.33dup	ENSP00000216392.7:p.Arg12AlafsTer?
ENST00000530336.2:n.100dup
ENST00000532462.5:c.33dup	ENSP00000431657.1:p.Arg12AlafsTer?
ENST00000544180.6:c.33dup	ENSP00000443787.1:p.Arg12AlafsTer?
NM_001163940.1:c.33dup	NP_001157412.1:p.Arg12AlafsTer?
NM_002863.4:c.33dup	NP_002854.3:p.Arg12AlafsTer?
NM_002863.5:c.33dup MANE Select	NP_002854.3:p.Arg12AlafsTer?
NM_001163940.2:c.33dup	NP_001157412.1:p.Arg12AlafsTer?