Canonical Allele Identifier: CA7183232
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs767156606
ExAC: 14:51376722 T / C
gnomAD v2: 14-51376722-T-C
gnomAD v3: 14-50910004-T-C
gnomAD v4: 14-50910004-T-C
MyVariant Identifiers: chr14:g.51376722T>C (hg19) chr14:g.50910004T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910004T>C , CM000676.2:g.50910004T>C GRCh38
NC_000014.8:g.51376722T>C , CM000676.1:g.51376722T>C GRCh37
NC_000014.7:g.50446472T>C NCBI36
NG_012796.1:g.39527A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2068A>G MANE Select ENSP00000216392.7:p.Ile690Val
ENST00000216392.7:c.2068A>G ENSP00000216392.7:p.Ile690Val
ENST00000532107.2:n.241A>G
ENST00000532462.5:c.2068A>G ENSP00000431657.1:p.Ile690Val
ENST00000544180.6:c.1966A>G ENSP00000443787.1:p.Ile656Val
NM_001163940.1:c.1966A>G NP_001157412.1:p.Ile656Val
NM_002863.4:c.2068A>G NP_002854.3:p.Ile690Val
NM_002863.5:c.2068A>G MANE Select NP_002854.3:p.Ile690Val
NM_001163940.2:c.1966A>G NP_001157412.1:p.Ile656Val
Search 100 bp 5'
Search 100 bp 3'