Canonical Allele Identifier: CA737145191

Gene: PLPP3

Linked Data

• dbSNP Id: rs1247360394
• gnomAD v3: 1-56500822-T-C
• gnomAD v4: 1-56500822-T-C
• MyVariant Identifiers: chr1:g.56966494T>C (hg19) ; chr1:g.56500822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500822T>C , CM000663.2:g.56500822T>C	GRCh38
NC_000001.10:g.56966494T>C , CM000663.1:g.56966494T>C	GRCh37
NC_000001.9:g.56739082T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-4146A>G MANE Select	ENSP00000360296.3:n.811-4146A>G
ENST00000641109.1:c.220-4146A>G	ENSP00000493138.1:n.220-4146A>G
ENST00000641494.1:c.65-4146A>G
ENST00000642129.1:c.455-4146A>G
ENST00000371250.3:c.811-4146A>G	ENSP00000360296.3:n.811-4146A>G
ENST00000459962.1:n.1797-4146A>G
ENST00000472957.1:n.296-4146A>G
NM_003713.4:c.811-4146A>G	NP_003704.3:n.811-4146A>G
NM_003713.5:c.811-4146A>G MANE Select	NP_003704.3:n.811-4146A>G