Canonical Allele Identifier: CA7183268

Gene: PYGL

Linked Data

• dbSNP Id: rs561688146
• ExAC: 14:51376866 C / A
• gnomAD v2: 14-51376866-C-A
• gnomAD v3: 14-50910148-C-A
• gnomAD v4: 14-50910148-C-A
• MyVariant Identifiers: chr14:g.51376866C>A (hg19) ; chr14:g.50910148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910148C>A , CM000676.2:g.50910148C>A	GRCh38
NC_000014.8:g.51376866C>A , CM000676.1:g.51376866C>A	GRCh37
NC_000014.7:g.50446616C>A	NCBI36
NG_012796.1:g.39383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-46G>T MANE Select	ENSP00000216392.7:n.1970-46G>T
ENST00000216392.7:c.1970-46G>T	ENSP00000216392.7:n.1970-46G>T
ENST00000532107.2:n.143-46G>T
ENST00000532462.5:c.1970-46G>T	ENSP00000431657.1:n.1970-46G>T
ENST00000544180.6:c.1868-46G>T	ENSP00000443787.1:n.1868-46G>T
NM_001163940.1:c.1868-46G>T	NP_001157412.1:n.1868-46G>T
NM_002863.4:c.1970-46G>T	NP_002854.3:n.1970-46G>T
NM_002863.5:c.1970-46G>T MANE Select	NP_002854.3:n.1970-46G>T
NM_001163940.2:c.1868-46G>T	NP_001157412.1:n.1868-46G>T