Canonical Allele Identifier: CA389682623

Gene: PYGL

Linked Data

• dbSNP Id: rs1440589937
• gnomAD v2: 14-51376775-G-C
• gnomAD v3: 14-50910057-G-C
• gnomAD v4: 14-50910057-G-C
• MyVariant Identifiers: chr14:g.51376775G>C (hg19) ; chr14:g.50910057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910057G>C , CM000676.2:g.50910057G>C	GRCh38
NC_000014.8:g.51376775G>C , CM000676.1:g.51376775G>C	GRCh37
NC_000014.7:g.50446525G>C	NCBI36
NG_012796.1:g.39474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2015C>G MANE Select	ENSP00000216392.7:p.Thr672Ser
ENST00000216392.7:c.2015C>G	ENSP00000216392.7:p.Thr672Ser
ENST00000532107.2:n.188C>G
ENST00000532462.5:c.2015C>G	ENSP00000431657.1:p.Thr672Ser
ENST00000544180.6:c.1913C>G	ENSP00000443787.1:p.Thr638Ser
NM_001163940.1:c.1913C>G	NP_001157412.1:p.Thr638Ser
NM_002863.4:c.2015C>G	NP_002854.3:p.Thr672Ser
NM_002863.5:c.2015C>G MANE Select	NP_002854.3:p.Thr672Ser
NM_001163940.2:c.1913C>G	NP_001157412.1:p.Thr638Ser