Canonical Allele Identifier: CA523122798
Gene: PLPP3 HGNC NCBI

Linked Data

dbSNP Id: rs1211705023
gnomAD v2: 1-56966470-A-G
gnomAD v3: 1-56500798-A-G
gnomAD v4: 1-56500798-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56500798A>G , CM000663.2:g.56500798A>G GRCh38
NC_000001.10:g.56966470A>G , CM000663.1:g.56966470A>G GRCh37
NC_000001.9:g.56739058A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371250.4:c.811-4122T>C MANE Select ENSP00000360296.3:n.811-4122T>C
ENST00000641109.1:c.220-4122T>C ENSP00000493138.1:n.220-4122T>C
ENST00000641494.1:c.65-4122T>C
ENST00000642129.1:c.455-4122T>C
ENST00000371250.3:c.811-4122T>C ENSP00000360296.3:n.811-4122T>C
ENST00000459962.1:n.1797-4122T>C
ENST00000472957.1:n.296-4122T>C
NM_003713.4:c.811-4122T>C NP_003704.3:n.811-4122T>C
NM_003713.5:c.811-4122T>C MANE Select NP_003704.3:n.811-4122T>C