Canonical Allele Identifier: CA7183250
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 258836
ClinVar RCV Id: RCV000250438 RCV000324331 RCV000675362
dbSNP Id: rs15669
ExAC: 14:51376774 G / A
gnomAD v2: 14-51376774-G-A
gnomAD v3: 14-50910056-G-A
gnomAD v4: 14-50910056-G-A
MyVariant Identifiers: chr14:g.51376774G>A (hg19) chr14:g.50910056G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910056G>A , CM000676.2:g.50910056G>A GRCh38
NC_000014.8:g.51376774G>A , CM000676.1:g.51376774G>A GRCh37
NC_000014.7:g.50446524G>A NCBI36
NG_012796.1:g.39475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.2016C>T MANE Select ENSP00000216392.7:p.Thr672=
ENST00000216392.7:c.2016C>T ENSP00000216392.7:p.Thr672=
ENST00000532107.2:n.189C>T
ENST00000532462.5:c.2016C>T ENSP00000431657.1:p.Thr672=
ENST00000544180.6:c.1914C>T ENSP00000443787.1:p.Thr638=
NM_001163940.1:c.1914C>T NP_001157412.1:p.Thr638=
NM_002863.4:c.2016C>T NP_002854.3:p.Thr672=
NM_002863.5:c.2016C>T MANE Select NP_002854.3:p.Thr672=
NM_001163940.2:c.1914C>T NP_001157412.1:p.Thr638=
Search 100 bp 5'
Search 100 bp 3'