Canonical Allele Identifier: CA7183259

Gene: PYGL

Linked Data

• ClinVar Variation Id: 2889116
• ClinVar RCV Id: RCV003624160
• dbSNP Id: rs773029579
• ExAC: 14:51376827 G / C
• gnomAD v2: 14-51376827-G-C
• gnomAD v4: 14-50910109-G-C
• MyVariant Identifiers: chr14:g.51376827G>C (hg19) ; chr14:g.50910109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910109G>C , CM000676.2:g.50910109G>C	GRCh38
NC_000014.8:g.51376827G>C , CM000676.1:g.51376827G>C	GRCh37
NC_000014.7:g.50446577G>C	NCBI36
NG_012796.1:g.39422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-7C>G MANE Select	ENSP00000216392.7:n.1970-7C>G
ENST00000216392.7:c.1970-7C>G	ENSP00000216392.7:n.1970-7C>G
ENST00000532107.2:n.143-7C>G
ENST00000532462.5:c.1970-7C>G	ENSP00000431657.1:n.1970-7C>G
ENST00000544180.6:c.1868-7C>G	ENSP00000443787.1:n.1868-7C>G
NM_001163940.1:c.1868-7C>G	NP_001157412.1:n.1868-7C>G
NM_002863.4:c.1970-7C>G	NP_002854.3:n.1970-7C>G
NM_002863.5:c.1970-7C>G MANE Select	NP_002854.3:n.1970-7C>G
NM_001163940.2:c.1868-7C>G	NP_001157412.1:n.1868-7C>G