Canonical Allele Identifier: CA23067069
Gene: PLPP3 HGNC NCBI

Linked Data

dbSNP Id: rs754600890
gnomAD v3: 1-56500792-G-T
gnomAD v4: 1-56500792-G-T
MyVariant Identifiers: chr1:g.56966464G>T (hg19) chr1:g.56500792G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56500792G>T , CM000663.2:g.56500792G>T GRCh38
NC_000001.10:g.56966464G>T , CM000663.1:g.56966464G>T GRCh37
NC_000001.9:g.56739052G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371250.4:c.811-4116C>A MANE Select ENSP00000360296.3:n.811-4116C>A
ENST00000641109.1:c.220-4116C>A ENSP00000493138.1:n.220-4116C>A
ENST00000641494.1:c.65-4116C>A
ENST00000642129.1:c.455-4116C>A
ENST00000371250.3:c.811-4116C>A ENSP00000360296.3:n.811-4116C>A
ENST00000459962.1:n.1797-4116C>A
ENST00000472957.1:n.296-4116C>A
NM_003713.4:c.811-4116C>A NP_003704.3:n.811-4116C>A
NM_003713.5:c.811-4116C>A MANE Select NP_003704.3:n.811-4116C>A
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