Canonical Allele Identifier: CA523122801
Gene: PLPP3 HGNC NCBI

Linked Data

dbSNP Id: rs1485838375
gnomAD v2: 1-56966502-C-A
gnomAD v3: 1-56500830-C-A
gnomAD v4: 1-56500830-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56500830C>A , CM000663.2:g.56500830C>A GRCh38
NC_000001.10:g.56966502C>A , CM000663.1:g.56966502C>A GRCh37
NC_000001.9:g.56739090C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371250.4:c.811-4154G>T MANE Select ENSP00000360296.3:n.811-4154G>T
ENST00000641109.1:c.220-4154G>T ENSP00000493138.1:n.220-4154G>T
ENST00000641494.1:c.65-4154G>T
ENST00000642129.1:c.455-4154G>T
ENST00000371250.3:c.811-4154G>T ENSP00000360296.3:n.811-4154G>T
ENST00000459962.1:n.1797-4154G>T
ENST00000472957.1:n.296-4154G>T
NM_003713.4:c.811-4154G>T NP_003704.3:n.811-4154G>T
NM_003713.5:c.811-4154G>T MANE Select NP_003704.3:n.811-4154G>T