Canonical Allele Identifier: CA7183861
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1929536
ClinVar RCV Id: RCV002635414
dbSNP Id: rs748734652
ExAC: 14:51404541 G / T
gnomAD v2: 14-51404541-G-T
gnomAD v4: 14-50937823-G-T
MyVariant Identifiers: chr14:g.51404541G>T (hg19) chr14:g.50937823G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937823G>T , CM000676.2:g.50937823G>T GRCh38
NC_000014.8:g.51404541G>T , CM000676.1:g.51404541G>T GRCh37
NC_000014.7:g.50474291G>T NCBI36
NG_012796.1:g.11708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.258C>A MANE Select ENSP00000216392.7:p.Leu86=
ENST00000216392.7:c.258C>A ENSP00000216392.7:p.Leu86=
ENST00000530336.2:n.325C>A
ENST00000532462.5:c.258C>A ENSP00000431657.1:p.Leu86=
ENST00000544180.6:c.244-2638C>A ENSP00000443787.1:n.244-2638C>A
NM_001163940.1:c.244-2638C>A NP_001157412.1:n.244-2638C>A
NM_002863.4:c.258C>A NP_002854.3:p.Leu86=
NM_002863.5:c.258C>A MANE Select NP_002854.3:p.Leu86=
NM_001163940.2:c.244-2638C>A NP_001157412.1:n.244-2638C>A
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