Canonical Allele Identifier: CA486385571

Gene: PYGL

Linked Data

• gnomAD v4: 14-50937823-G-C
• MyVariant Identifiers: chr14:g.51404541G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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