Canonical Allele Identifier: CA7183868

Gene: PYGL

Linked Data

• dbSNP Id: rs770075182
• ExAC: 14:51404588 C / G
• gnomAD v2: 14-51404588-C-G
• gnomAD v4: 14-50937870-C-G
• MyVariant Identifiers: chr14:g.51404588C>G (hg19) ; chr14:g.50937870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937870C>G , CM000676.2:g.50937870C>G	GRCh38
NC_000014.8:g.51404588C>G , CM000676.1:g.51404588C>G	GRCh37
NC_000014.7:g.50474338C>G	NCBI36
NG_012796.1:g.11661G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.244-33G>C MANE Select	ENSP00000216392.7:n.244-33G>C
ENST00000216392.7:c.244-33G>C	ENSP00000216392.7:n.244-33G>C
ENST00000530336.2:n.311-33G>C
ENST00000532462.5:c.244-33G>C	ENSP00000431657.1:n.244-33G>C
ENST00000544180.6:c.244-2685G>C	ENSP00000443787.1:n.244-2685G>C
NM_001163940.1:c.244-2685G>C	NP_001157412.1:n.244-2685G>C
NM_002863.4:c.244-33G>C	NP_002854.3:n.244-33G>C
NM_002863.5:c.244-33G>C MANE Select	NP_002854.3:n.244-33G>C
NM_001163940.2:c.244-2685G>C	NP_001157412.1:n.244-2685G>C