Canonical Allele Identifier: CA255710

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11092
• ClinVar RCV Id: RCV000011841 ; RCV001786328
• dbSNP Id: rs132630294
• MyVariant Identifiers: chrX:g.103042782C>T (hg19) ; chrX:g.103787853C>T (hg38)
• PubMed: PMID:9489796

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787853C>T , CM000685.2:g.103787853C>T	GRCh38
NC_000023.10:g.103042782C>T , CM000685.1:g.103042782C>T	GRCh37
NC_000023.9:g.102929438C>T	NCBI36
NG_008863.2:g.16343C>T
NG_016452.2:g.49430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.509C>T (PLP1) MANE Select	ENSP00000484450.1:p.Ser170Phe
ENST00000461231.5:n.320C>T (PLP1)
ENST00000466486.1:n.345C>T (PLP1)
ENST00000478642.5:n.490C>T (PLP1)
ENST00000479569.5:n.555C>T (PLP1)
ENST00000485688.5:n.246C>T (PLP1)
ENST00000494119.1:n.55C>T (PLP1)
ENST00000612423.4:c.509C>T (PLP1)	ENSP00000481006.1:p.Ser170Phe
ENST00000619236.1:c.404C>T (PLP1)	ENSP00000477619.1:p.Ser135Phe
ENST00000621218.4:c.509C>T (PLP1)	ENSP00000484450.1:p.Ser170Phe
NM_000533.4:c.509C>T (PLP1)	NP_000524.3:p.Ser170Phe
NM_001128834.2:c.509C>T (PLP1)	NP_001122306.1:p.Ser170Phe
NM_001305004.1:c.344C>T (PLP1)	NP_001291933.1:p.Ser115Phe
NM_199478.2:c.404C>T (PLP1)	NP_955772.1:p.Ser135Phe
XR_244483.3:n.862+4828G>A
NR_146558.1:n.457+4828G>A (RAB9B)
NR_146560.1:n.743+4828G>A (RAB9B)
NM_000533.5:c.509C>T (PLP1) MANE Select	NP_000524.3:p.Ser170Phe
NM_199478.3:c.404C>T (PLP1)	NP_955772.1:p.Ser135Phe
NM_001128834.3:c.509C>T (PLP1)	NP_001122306.1:p.Ser170Phe
NR_146558.2:n.432+4828G>A (RAB9B)
NR_146560.2:n.718+4828G>A (RAB9B)