Canonical Allele Identifier: CA255699

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11084
• ClinVar RCV Id: RCV000011833
• dbSNP Id: rs132630287
• MyVariant Identifiers: chrX:g.103041620C>T (hg19) ; chrX:g.103786691C>T (hg38)
• PubMed: PMID:8012387 ; PMID:8320699

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786691C>T , CM000685.2:g.103786691C>T	GRCh38
NC_000023.10:g.103041620C>T , CM000685.1:g.103041620C>T	GRCh37
NC_000023.9:g.102928276C>T	NCBI36
NG_008863.2:g.15181C>T
NG_016452.2:g.50592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.418C>T (PLP1) MANE Select	ENSP00000484450.1:p.His140Tyr
ENST00000461231.5:n.264+70C>T (PLP1)
ENST00000465975.1:n.312-36C>T (PLP1)
ENST00000476160.1:n.397C>T (PLP1)
ENST00000478642.5:n.399C>T (PLP1)
ENST00000479569.5:n.499+70C>T (PLP1)
ENST00000485688.5:n.190+70C>T (PLP1)
ENST00000485931.5:n.496C>T (PLP1)
ENST00000612423.4:c.418C>T (PLP1)	ENSP00000481006.1:p.His140Tyr
ENST00000619236.1:c.348+70C>T (PLP1)	ENSP00000477619.1:n.348+70C>T
ENST00000621218.4:c.418C>T (PLP1)	ENSP00000484450.1:p.His140Tyr
NM_000533.4:c.418C>T (PLP1)	NP_000524.3:p.His140Tyr
NM_001128834.2:c.418C>T (PLP1)	NP_001122306.1:p.His140Tyr
NM_001305004.1:c.253C>T (PLP1)	NP_001291933.1:p.His85Tyr
NM_199478.2:c.348+70C>T (PLP1)	NP_955772.1:n.348+70C>T
XR_244483.3:n.862+5990G>A
NR_146558.1:n.457+5990G>A (RAB9B)
NR_146560.1:n.743+5990G>A (RAB9B)
NM_000533.5:c.418C>T (PLP1) MANE Select	NP_000524.3:p.His140Tyr
NM_199478.3:c.348+70C>T (PLP1)	NP_955772.1:n.348+70C>T
NM_001128834.3:c.418C>T (PLP1)	NP_001122306.1:p.His140Tyr
NR_146558.2:n.432+5990G>A (RAB9B)
NR_146560.2:n.718+5990G>A (RAB9B)