Canonical Allele Identifier: CA613881864

Gene: PYGL

Linked Data

• dbSNP Id: rs1405882067
• gnomAD v2: 14-51378422-T-C
• gnomAD v4: 14-50911704-T-C
• MyVariant Identifiers: chr14:g.51378422T>C (hg19) ; chr14:g.50911704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911704T>C , CM000676.2:g.50911704T>C	GRCh38
NC_000014.8:g.51378422T>C , CM000676.1:g.51378422T>C	GRCh37
NC_000014.7:g.50448172T>C	NCBI36
NG_012796.1:g.37827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+26A>G MANE Select	ENSP00000216392.7:n.1969+26A>G
ENST00000216392.7:c.1969+26A>G	ENSP00000216392.7:n.1969+26A>G
ENST00000532107.2:n.142+26A>G
ENST00000532462.5:c.1969+26A>G	ENSP00000431657.1:n.1969+26A>G
ENST00000544180.6:c.1867+26A>G	ENSP00000443787.1:n.1867+26A>G
NM_001163940.1:c.1867+26A>G	NP_001157412.1:n.1867+26A>G
NM_002863.4:c.1969+26A>G	NP_002854.3:n.1969+26A>G
NM_002863.5:c.1969+26A>G MANE Select	NP_002854.3:n.1969+26A>G
NM_001163940.2:c.1867+26A>G	NP_001157412.1:n.1867+26A>G