Canonical Allele Identifier: CA10606773

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 290425
• ClinVar RCV Id: RCV000380260 ; RCV000691268
• dbSNP Id: rs886044450
• MyVariant Identifiers: chrX:g.103041655G>A (hg19) ; chrX:g.103786726G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786726G>A , CM000685.2:g.103786726G>A	GRCh38
NC_000023.10:g.103041655G>A , CM000685.1:g.103041655G>A	GRCh37
NC_000023.9:g.102928311G>A	NCBI36
NG_008863.2:g.15216G>A
NG_016452.2:g.50557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.453G>A (PLP1) MANE Select	ENSP00000484450.1:p.Lys151=
ENST00000461231.5:n.264+105G>A (PLP1)
ENST00000465975.1:n.312-1G>A (PLP1)
ENST00000476160.1:n.432G>A (PLP1)
ENST00000478642.5:n.434G>A (PLP1)
ENST00000479569.5:n.499+105G>A (PLP1)
ENST00000485688.5:n.190+105G>A (PLP1)
ENST00000485931.5:n.531G>A (PLP1)
ENST00000612423.4:c.453G>A (PLP1)	ENSP00000481006.1:p.Lys151=
ENST00000619236.1:c.348+105G>A (PLP1)	ENSP00000477619.1:n.348+105G>A
ENST00000621218.4:c.453G>A (PLP1)	ENSP00000484450.1:p.Lys151=
NM_000533.4:c.453G>A (PLP1)	NP_000524.3:p.Lys151=
NM_001128834.2:c.453G>A (PLP1)	NP_001122306.1:p.Lys151=
NM_001305004.1:c.288G>A (PLP1)	NP_001291933.1:p.Lys96=
NM_199478.2:c.348+105G>A (PLP1)	NP_955772.1:n.348+105G>A
XR_244483.3:n.862+5955C>T
NR_146558.1:n.457+5955C>T (RAB9B)
NR_146560.1:n.743+5955C>T (RAB9B)
NM_000533.5:c.453G>A (PLP1) MANE Select	NP_000524.3:p.Lys151=
NM_199478.3:c.348+105G>A (PLP1)	NP_955772.1:n.348+105G>A
NM_001128834.3:c.453G>A (PLP1)	NP_001122306.1:p.Lys151=
NR_146558.2:n.432+5955C>T (RAB9B)
NR_146560.2:n.718+5955C>T (RAB9B)