Canonical Allele Identifier: CA23067071
Gene: PLPP3 HGNC NCBI

Linked Data

dbSNP Id: rs922237615
gnomAD v2: 1-56966487-G-T
gnomAD v3: 1-56500815-G-T
gnomAD v4: 1-56500815-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56500815G>T , CM000663.2:g.56500815G>T GRCh38
NC_000001.10:g.56966487G>T , CM000663.1:g.56966487G>T GRCh37
NC_000001.9:g.56739075G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371250.4:c.811-4139C>A MANE Select ENSP00000360296.3:n.811-4139C>A
ENST00000641109.1:c.220-4139C>A ENSP00000493138.1:n.220-4139C>A
ENST00000641494.1:c.65-4139C>A
ENST00000642129.1:c.455-4139C>A
ENST00000371250.3:c.811-4139C>A ENSP00000360296.3:n.811-4139C>A
ENST00000459962.1:n.1797-4139C>A
ENST00000472957.1:n.296-4139C>A
NM_003713.4:c.811-4139C>A NP_003704.3:n.811-4139C>A
NM_003713.5:c.811-4139C>A MANE Select NP_003704.3:n.811-4139C>A