Canonical Allele Identifier: CA23067039

Gene: PLPP3

Linked Data

• dbSNP Id: rs541462156
• gnomAD v2: 1-56966268-A-C
• gnomAD v3: 1-56500596-A-C
• gnomAD v4: 1-56500596-A-C
• MyVariant Identifiers: chr1:g.56966268A>C (hg19) ; chr1:g.56500596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56500596A>C , CM000663.2:g.56500596A>C	GRCh38
NC_000001.10:g.56966268A>C , CM000663.1:g.56966268A>C	GRCh37
NC_000001.9:g.56738856A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371250.4:c.811-3920T>G MANE Select	ENSP00000360296.3:n.811-3920T>G
ENST00000641109.1:c.220-3920T>G	ENSP00000493138.1:n.220-3920T>G
ENST00000641494.1:c.65-3920T>G
ENST00000642129.1:c.455-3920T>G
ENST00000371250.3:c.811-3920T>G	ENSP00000360296.3:n.811-3920T>G
ENST00000459962.1:n.1797-3920T>G
ENST00000472957.1:n.296-3920T>G
NM_003713.4:c.811-3920T>G	NP_003704.3:n.811-3920T>G
NM_003713.5:c.811-3920T>G MANE Select	NP_003704.3:n.811-3920T>G