Canonical Allele Identifier: CA389699326

Gene: PYGL

Linked Data

• gnomAD v4: 14-50944222-C-A
• MyVariant Identifiers: chr14:g.51410940C>A (hg19) ; chr14:g.50944222C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944222C>A , CM000676.2:g.50944222C>A	GRCh38
NC_000014.8:g.51410940C>A , CM000676.1:g.51410940C>A	GRCh37
NC_000014.7:g.50480690C>A	NCBI36
NG_012796.1:g.5309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.182G>T MANE Select	ENSP00000216392.7:p.Arg61Leu
ENST00000216392.7:c.182G>T	ENSP00000216392.7:p.Arg61Leu
ENST00000530336.2:n.249G>T
ENST00000532462.5:c.182G>T	ENSP00000431657.1:p.Arg61Leu
ENST00000544180.6:c.182G>T	ENSP00000443787.1:p.Arg61Leu
NM_001163940.1:c.182G>T	NP_001157412.1:p.Arg61Leu
NM_002863.4:c.182G>T	NP_002854.3:p.Arg61Leu
NM_002863.5:c.182G>T MANE Select	NP_002854.3:p.Arg61Leu
NM_001163940.2:c.182G>T	NP_001157412.1:p.Arg61Leu