Canonical Allele Identifier: CA737145109

Gene: PLPP3

Linked Data

• dbSNP Id: rs1470533480
• gnomAD v3: 1-56500625-A-G
• gnomAD v4: 1-56500625-A-G
• MyVariant Identifiers: chr1:g.56966297A>G (hg19) ; chr1:g.56500625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500625A>G , CM000663.2:g.56500625A>G	GRCh38
NC_000001.10:g.56966297A>G , CM000663.1:g.56966297A>G	GRCh37
NC_000001.9:g.56738885A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-3949T>C MANE Select	ENSP00000360296.3:n.811-3949T>C
ENST00000641109.1:c.220-3949T>C	ENSP00000493138.1:n.220-3949T>C
ENST00000641494.1:c.65-3949T>C
ENST00000642129.1:c.455-3949T>C
ENST00000371250.3:c.811-3949T>C	ENSP00000360296.3:n.811-3949T>C
ENST00000459962.1:n.1797-3949T>C
ENST00000472957.1:n.296-3949T>C
NM_003713.4:c.811-3949T>C	NP_003704.3:n.811-3949T>C
NM_003713.5:c.811-3949T>C MANE Select	NP_003704.3:n.811-3949T>C