Canonical Allele Identifier: CA7183930
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs769519340
ExAC: 14:51411119 C / T
gnomAD v2: 14-51411119-C-T
gnomAD v4: 14-50944401-C-T
MyVariant Identifiers: chr14:g.51411119C>T (hg19) chr14:g.50944401C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944401C>T , CM000676.2:g.50944401C>T GRCh38
NC_000014.8:g.51411119C>T , CM000676.1:g.51411119C>T GRCh37
NC_000014.7:g.50480869C>T NCBI36
NG_012796.1:g.5130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.3G>A MANE Select ENSP00000216392.7:p.Met1Ile
ENST00000216392.7:c.3G>A ENSP00000216392.7:p.Met1Ile
ENST00000530336.2:n.70G>A
ENST00000532462.5:c.3G>A ENSP00000431657.1:p.Met1Ile
ENST00000544180.6:c.3G>A ENSP00000443787.1:p.Met1Ile
NM_001163940.1:c.3G>A NP_001157412.1:p.Met1Ile
NM_002863.4:c.3G>A NP_002854.3:p.Met1Ile
NM_002863.5:c.3G>A MANE Select NP_002854.3:p.Met1Ile
NM_001163940.2:c.3G>A NP_001157412.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'