Canonical Allele Identifier: CA221105
Gene: PLP1 HGNC NCBI
RAB9B HGNC NCBI

Linked Data

ClinVar Variation Id: 11074
ClinVar RCV Id: RCV000011823 RCV000079097
dbSNP Id: rs132630279
MyVariant Identifiers: chrX:g.103042760T>C (hg19) chrX:g.103787831T>C (hg38)
PubMed: PMID:2479017 PMID:3827224 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103787831T>C , CM000685.2:g.103787831T>C GRCh38
NC_000023.10:g.103042760T>C , CM000685.1:g.103042760T>C GRCh37
NC_000023.9:g.102929416T>C NCBI36
NG_008863.2:g.16321T>C
NG_016452.2:g.49452A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000621218.5:c.487T>C (PLP1) MANE Select ENSP00000484450.1:p.Trp163Arg
ENST00000461231.5:n.298T>C (PLP1)
ENST00000466486.1:n.323T>C (PLP1)
ENST00000478642.5:n.468T>C (PLP1)
ENST00000479569.5:n.533T>C (PLP1)
ENST00000485688.5:n.224T>C (PLP1)
ENST00000494119.1:n.33T>C (PLP1)
ENST00000612423.4:c.487T>C (PLP1) ENSP00000481006.1:p.Trp163Arg
ENST00000619236.1:c.382T>C (PLP1) ENSP00000477619.1:p.Trp128Arg
ENST00000621218.4:c.487T>C (PLP1) ENSP00000484450.1:p.Trp163Arg
NM_000533.4:c.487T>C (PLP1) NP_000524.3:p.Trp163Arg
NM_001128834.2:c.487T>C (PLP1) NP_001122306.1:p.Trp163Arg
NM_001305004.1:c.322T>C (PLP1) NP_001291933.1:p.Trp108Arg
NM_199478.2:c.382T>C (PLP1) NP_955772.1:p.Trp128Arg
XR_244483.3:n.862+4850A>G
NR_146558.1:n.457+4850A>G (RAB9B)
NR_146560.1:n.743+4850A>G (RAB9B)
NM_000533.5:c.487T>C (PLP1) MANE Select NP_000524.3:p.Trp163Arg
NM_199478.3:c.382T>C (PLP1) NP_955772.1:p.Trp128Arg
NM_001128834.3:c.487T>C (PLP1) NP_001122306.1:p.Trp163Arg
NR_146558.2:n.432+4850A>G (RAB9B)
NR_146560.2:n.718+4850A>G (RAB9B)
Search 100 bp 5'
Search 100 bp 3'