Canonical Allele Identifier: CA486653837

Gene: PYGL

Linked Data

• dbSNP Id: rs1192443616
• gnomAD v2: 14-51411016-G-A
• gnomAD v4: 14-50944298-G-A
• MyVariant Identifiers: chr14:g.51411016G>A (hg19) ; chr14:g.50944298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944298G>A , CM000676.2:g.50944298G>A	GRCh38
NC_000014.8:g.51411016G>A , CM000676.1:g.51411016G>A	GRCh37
NC_000014.7:g.50480766G>A	NCBI36
NG_012796.1:g.5233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.106C>T MANE Select	ENSP00000216392.7:p.Leu36=
ENST00000216392.7:c.106C>T	ENSP00000216392.7:p.Leu36=
ENST00000530336.2:n.173C>T
ENST00000532462.5:c.106C>T	ENSP00000431657.1:p.Leu36=
ENST00000544180.6:c.106C>T	ENSP00000443787.1:p.Leu36=
NM_001163940.1:c.106C>T	NP_001157412.1:p.Leu36=
NM_002863.4:c.106C>T	NP_002854.3:p.Leu36=
NM_002863.5:c.106C>T MANE Select	NP_002854.3:p.Leu36=
NM_001163940.2:c.106C>T	NP_001157412.1:p.Leu36=