Canonical Allele Identifier: CA23067075

Gene: PLPP3

Linked Data

• dbSNP Id: rs941172322
• gnomAD v3: 1-56500846-G-A
• gnomAD v4: 1-56500846-G-A
• MyVariant Identifiers: chr1:g.56966518G>A (hg19) ; chr1:g.56500846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500846G>A , CM000663.2:g.56500846G>A	GRCh38
NC_000001.10:g.56966518G>A , CM000663.1:g.56966518G>A	GRCh37
NC_000001.9:g.56739106G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-4170C>T MANE Select	ENSP00000360296.3:n.811-4170C>T
ENST00000641109.1:c.220-4170C>T	ENSP00000493138.1:n.220-4170C>T
ENST00000641494.1:c.65-4170C>T
ENST00000642129.1:c.455-4170C>T
ENST00000371250.3:c.811-4170C>T	ENSP00000360296.3:n.811-4170C>T
ENST00000459962.1:n.1797-4170C>T
ENST00000472957.1:n.296-4170C>T
NM_003713.4:c.811-4170C>T	NP_003704.3:n.811-4170C>T
NM_003713.5:c.811-4170C>T MANE Select	NP_003704.3:n.811-4170C>T