Canonical Allele Identifier: CA7183255
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1091709
ClinVar RCV Id: RCV001411286
dbSNP Id: rs148777213
ExAC: 14:51376795 C / T
gnomAD v2: 14-51376795-C-T
gnomAD v3: 14-50910077-C-T
gnomAD v4: 14-50910077-C-T
COSMIC: COSM956105
MyVariant Identifiers: chr14:g.51376795C>T (hg19) chr14:g.50910077C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910077C>T , CM000676.2:g.50910077C>T GRCh38
NC_000014.8:g.51376795C>T , CM000676.1:g.51376795C>T GRCh37
NC_000014.7:g.50446545C>T NCBI36
NG_012796.1:g.39454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1995G>A MANE Select ENSP00000216392.7:p.Glu665=
ENST00000216392.7:c.1995G>A ENSP00000216392.7:p.Glu665=
ENST00000532107.2:n.168G>A
ENST00000532462.5:c.1995G>A ENSP00000431657.1:p.Glu665=
ENST00000544180.6:c.1893G>A ENSP00000443787.1:p.Glu631=
NM_001163940.1:c.1893G>A NP_001157412.1:p.Glu631=
NM_002863.4:c.1995G>A NP_002854.3:p.Glu665=
NM_002863.5:c.1995G>A MANE Select NP_002854.3:p.Glu665=
NM_001163940.2:c.1893G>A NP_001157412.1:p.Glu631=
Search 100 bp 5'
Search 100 bp 3'