Canonical Allele Identifier: CA613881856

Gene: PYGL

Linked Data

• dbSNP Id: rs1342838897
• gnomAD v2: 14-51378256-T-C
• gnomAD v3: 14-50911538-T-C
• gnomAD v4: 14-50911538-T-C
• MyVariant Identifiers: chr14:g.51378256T>C (hg19) ; chr14:g.50911538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911538T>C , CM000676.2:g.50911538T>C	GRCh38
NC_000014.8:g.51378256T>C , CM000676.1:g.51378256T>C	GRCh37
NC_000014.7:g.50448006T>C	NCBI36
NG_012796.1:g.37993A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+192A>G MANE Select	ENSP00000216392.7:n.1969+192A>G
ENST00000216392.7:c.1969+192A>G	ENSP00000216392.7:n.1969+192A>G
ENST00000532107.2:n.142+192A>G
ENST00000532462.5:c.1969+192A>G	ENSP00000431657.1:n.1969+192A>G
ENST00000544180.6:c.1867+192A>G	ENSP00000443787.1:n.1867+192A>G
NM_001163940.1:c.1867+192A>G	NP_001157412.1:n.1867+192A>G
NM_002863.4:c.1969+192A>G	NP_002854.3:n.1969+192A>G
NM_002863.5:c.1969+192A>G MANE Select	NP_002854.3:n.1969+192A>G
NM_001163940.2:c.1867+192A>G	NP_001157412.1:n.1867+192A>G