Canonical Allele Identifier: CA486383893
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51387753C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50921035C>T , CM000676.2:g.50921035C>T GRCh38
NC_000014.8:g.51387753C>T , CM000676.1:g.51387753C>T GRCh37
NC_000014.7:g.50457503C>T NCBI36
NG_012796.1:g.28496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.693G>A MANE Select ENSP00000216392.7:p.Val231=
ENST00000216392.7:c.693G>A ENSP00000216392.7:p.Val231=
ENST00000532462.5:c.693G>A ENSP00000431657.1:p.Val231=
ENST00000544180.6:c.591G>A ENSP00000443787.1:p.Val197=
ENST00000553872.1:n.494G>A
NM_001163940.1:c.591G>A NP_001157412.1:p.Val197=
NM_002863.4:c.693G>A NP_002854.3:p.Val231=
NM_002863.5:c.693G>A MANE Select NP_002854.3:p.Val231=
NM_001163940.2:c.591G>A NP_001157412.1:p.Val197=
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