Canonical Allele Identifier: CA4711140
Gene: PLPBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1027730
ClinVar RCV Id: RCV001328599
dbSNP Id: rs372469431
gnomAD v2: 8-37623081-G-A
gnomAD v3: 8-37765563-G-A
gnomAD v4: 8-37765563-G-A
COSMIC: COSM145820

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765563G>A , CM000670.2:g.37765563G>A GRCh38
NC_000008.10:g.37623081G>A , CM000670.1:g.37623081G>A GRCh37
NC_000008.9:g.37742239G>A NCBI36
NG_053030.1:g.8811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.137G>A MANE Select ENSP00000333551.3:p.Ser46Asn
ENST00000328195.7:c.137G>A ENSP00000333551.3:p.Ser46Asn
ENST00000518036.5:c.137G>A ENSP00000428005.1:p.Ser46Asn
ENST00000520073.5:n.202G>A
ENST00000523187.5:c.-20G>A ENSP00000427886.1:n.-20G>A
ENST00000523358.5:c.137G>A ENSP00000427778.1:p.Ser46Asn
ENST00000523994.1:n.142G>A
NM_007198.3:c.137G>A NP_009129.1:p.Ser46Asn
NM_001349346.1:c.137G>A NP_001336275.1:p.Ser46Asn
NM_001349347.1:c.137G>A NP_001336276.1:p.Ser46Asn
NM_001349348.1:c.-20G>A NP_001336277.1:n.-20G>A
NM_001349349.1:c.242G>A NP_001336278.1:p.Ser81Asn
NM_007198.4:c.137G>A MANE Select NP_009129.1:p.Ser46Asn
NM_001349346.2:c.137G>A NP_001336275.1:p.Ser46Asn
NM_001349347.2:c.137G>A NP_001336276.1:p.Ser46Asn
NM_001349348.2:c.-20G>A NP_001336277.1:n.-20G>A