Canonical Allele Identifier: CA7183247

Gene: PYGL

Linked Data

• dbSNP Id: rs113993986
• ExAC: 14:51376766 G / C
• gnomAD v2: 14-51376766-G-C
• gnomAD v3: 14-50910048-G-C
• gnomAD v4: 14-50910048-G-C
• MyVariant Identifiers: chr14:g.51376766G>C (hg19) ; chr14:g.50910048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910048G>C , CM000676.2:g.50910048G>C	GRCh38
NC_000014.8:g.51376766G>C , CM000676.1:g.51376766G>C	GRCh37
NC_000014.7:g.50446516G>C	NCBI36
NG_012796.1:g.39483C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2024C>G MANE Select	ENSP00000216392.7:p.Ser675Trp
ENST00000216392.7:c.2024C>G	ENSP00000216392.7:p.Ser675Trp
ENST00000532107.2:n.197C>G
ENST00000532462.5:c.2024C>G	ENSP00000431657.1:p.Ser675Trp
ENST00000544180.6:c.1922C>G	ENSP00000443787.1:p.Ser641Trp
NM_001163940.1:c.1922C>G	NP_001157412.1:p.Ser641Trp
NM_002863.4:c.2024C>G	NP_002854.3:p.Ser675Trp
NM_002863.5:c.2024C>G MANE Select	NP_002854.3:p.Ser675Trp
NM_001163940.2:c.1922C>G	NP_001157412.1:p.Ser641Trp