Canonical Allele Identifier: CA7183084

Gene: PYGL

Linked Data

• ClinVar Variation Id: 258829
• ClinVar RCV Id: RCV000253228 ; RCV000298304 ; RCV000675359
• dbSNP Id: rs1042266
• ExAC: 14:51372103 C / G
• gnomAD v2: 14-51372103-C-G
• gnomAD v3: 14-50905385-C-G
• gnomAD v4: 14-50905385-C-G
• MyVariant Identifiers: chr14:g.51372103C>G (hg19) ; chr14:g.50905385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905385C>G , CM000676.2:g.50905385C>G	GRCh38
NC_000014.8:g.51372103C>G , CM000676.1:g.51372103C>G	GRCh37
NC_000014.7:g.50441853C>G	NCBI36
NG_012796.1:g.44146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*7G>C MANE Select	ENSP00000216392.7:n.*7G>C
ENST00000216392.7:c.*7G>C	ENSP00000216392.7:n.*7G>C
ENST00000532462.5:c.2379+2886G>C	ENSP00000431657.1:n.2379+2886G>C
ENST00000544180.6:c.*7G>C	ENSP00000443787.1:n.*7G>C
NM_001163940.1:c.*7G>C	NP_001157412.1:n.*7G>C
NM_002863.4:c.*7G>C	NP_002854.3:n.*7G>C
NM_002863.5:c.*7G>C MANE Select	NP_002854.3:n.*7G>C
NM_001163940.2:c.*7G>C	NP_001157412.1:n.*7G>C