Canonical Allele Identifier: CA614275291

Gene: PYGL

Linked Data

• dbSNP Id: rs1425972746
• gnomAD v2: 14-51382503-T-G
• gnomAD v4: 14-50915785-T-G
• MyVariant Identifiers: chr14:g.51382503T>G (hg19) ; chr14:g.50915785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915785T>G , CM000676.2:g.50915785T>G	GRCh38
NC_000014.8:g.51382503T>G , CM000676.1:g.51382503T>G	GRCh37
NC_000014.7:g.50452253T>G	NCBI36
NG_012796.1:g.33746A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.1239+40A>C MANE Select	ENSP00000216392.7:n.1239+40A>C
ENST00000216392.7:c.1239+40A>C	ENSP00000216392.7:n.1239+40A>C
ENST00000528757.2:n.116+40A>C
ENST00000532462.5:c.1239+40A>C	ENSP00000431657.1:n.1239+40A>C
ENST00000544180.6:c.1137+40A>C	ENSP00000443787.1:n.1137+40A>C
NM_001163940.1:c.1137+40A>C	NP_001157412.1:n.1137+40A>C
NM_002863.4:c.1239+40A>C	NP_002854.3:n.1239+40A>C
NM_002863.5:c.1239+40A>C MANE Select	NP_002854.3:n.1239+40A>C
NM_001163940.2:c.1137+40A>C	NP_001157412.1:n.1137+40A>C