Canonical Allele Identifier: CA486653684

Gene: PYGL

Linked Data

• MyVariant Identifiers: chr14:g.51410882G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944164G>C , CM000676.2:g.50944164G>C	GRCh38
NC_000014.8:g.51410882G>C , CM000676.1:g.51410882G>C	GRCh37
NC_000014.7:g.50480632G>C	NCBI36
NG_012796.1:g.5367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.240C>G MANE Select	ENSP00000216392.7:p.Pro80=
ENST00000216392.7:c.240C>G	ENSP00000216392.7:p.Pro80=
ENST00000530336.2:n.307C>G
ENST00000532462.5:c.240C>G	ENSP00000431657.1:p.Pro80=
ENST00000544180.6:c.240C>G	ENSP00000443787.1:p.Pro80=
NM_001163940.1:c.240C>G	NP_001157412.1:p.Pro80=
NM_002863.4:c.240C>G	NP_002854.3:p.Pro80=
NM_002863.5:c.240C>G MANE Select	NP_002854.3:p.Pro80=
NM_001163940.2:c.240C>G	NP_001157412.1:p.Pro80=