Canonical Allele Identifier: CA7183257
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1103947
ClinVar RCV Id: RCV001427807 RCV002261362
dbSNP Id: rs142483613
ExAC: 14:51376809 T / C
gnomAD v2: 14-51376809-T-C
gnomAD v3: 14-50910091-T-C
gnomAD v4: 14-50910091-T-C
MyVariant Identifiers: chr14:g.51376809T>C (hg19) chr14:g.50910091T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910091T>C , CM000676.2:g.50910091T>C GRCh38
NC_000014.8:g.51376809T>C , CM000676.1:g.51376809T>C GRCh37
NC_000014.7:g.50446559T>C NCBI36
NG_012796.1:g.39440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1981A>G MANE Select ENSP00000216392.7:p.Thr661Ala
ENST00000216392.7:c.1981A>G ENSP00000216392.7:p.Thr661Ala
ENST00000532107.2:n.154A>G
ENST00000532462.5:c.1981A>G ENSP00000431657.1:p.Thr661Ala
ENST00000544180.6:c.1879A>G ENSP00000443787.1:p.Thr627Ala
NM_001163940.1:c.1879A>G NP_001157412.1:p.Thr627Ala
NM_002863.4:c.1981A>G NP_002854.3:p.Thr661Ala
NM_002863.5:c.1981A>G MANE Select NP_002854.3:p.Thr661Ala
NM_001163940.2:c.1879A>G NP_001157412.1:p.Thr627Ala
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