Canonical Allele Identifier: CA486376051

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51376789A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910071A>T , CM000676.2:g.50910071A>T	GRCh38
NC_000014.8:g.51376789A>T , CM000676.1:g.51376789A>T	GRCh37
NC_000014.7:g.50446539A>T	NCBI36
NG_012796.1:g.39460T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2001T>A MANE Select	ENSP00000216392.7:p.Ile667=
ENST00000216392.7:c.2001T>A	ENSP00000216392.7:p.Ile667=
ENST00000532107.2:n.174T>A
ENST00000532462.5:c.2001T>A	ENSP00000431657.1:p.Ile667=
ENST00000544180.6:c.1899T>A	ENSP00000443787.1:p.Ile633=
NM_001163940.1:c.1899T>A	NP_001157412.1:p.Ile633=
NM_002863.4:c.2001T>A	NP_002854.3:p.Ile667=
NM_002863.5:c.2001T>A MANE Select	NP_002854.3:p.Ile667=
NM_001163940.2:c.1899T>A	NP_001157412.1:p.Ile633=