Canonical Allele Identifier: CA255701

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11085
• ClinVar RCV Id: RCV000011834
• dbSNP Id: rs132630288
• MyVariant Identifiers: chrX:g.103042833T>C (hg19) ; chrX:g.103787904T>C (hg38)
• PubMed: PMID:7522741 ; PMID:9427151 ; PMID:14452137 ; PMID:14745569

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787904T>C , CM000685.2:g.103787904T>C	GRCh38
NC_000023.10:g.103042833T>C , CM000685.1:g.103042833T>C	GRCh37
NC_000023.9:g.102929489T>C	NCBI36
NG_008863.2:g.16394T>C
NG_016452.2:g.49379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.560T>C (PLP1) MANE Select	ENSP00000484450.1:p.Ile187Thr
ENST00000461231.5:n.371T>C (PLP1)
ENST00000466486.1:n.396T>C (PLP1)
ENST00000478642.5:n.541T>C (PLP1)
ENST00000479569.5:n.606T>C (PLP1)
ENST00000485688.5:n.297T>C (PLP1)
ENST00000494119.1:n.106T>C (PLP1)
ENST00000612423.4:c.560T>C (PLP1)	ENSP00000481006.1:p.Ile187Thr
ENST00000619236.1:c.455T>C (PLP1)	ENSP00000477619.1:p.Ile152Thr
ENST00000621218.4:c.560T>C (PLP1)	ENSP00000484450.1:p.Ile187Thr
NM_000533.4:c.560T>C (PLP1)	NP_000524.3:p.Ile187Thr
NM_001128834.2:c.560T>C (PLP1)	NP_001122306.1:p.Ile187Thr
NM_001305004.1:c.395T>C (PLP1)	NP_001291933.1:p.Ile132Thr
NM_199478.2:c.455T>C (PLP1)	NP_955772.1:p.Ile152Thr
XR_244483.3:n.862+4777A>G
NR_146558.1:n.457+4777A>G (RAB9B)
NR_146560.1:n.743+4777A>G (RAB9B)
NM_000533.5:c.560T>C (PLP1) MANE Select	NP_000524.3:p.Ile187Thr
NM_199478.3:c.455T>C (PLP1)	NP_955772.1:p.Ile152Thr
NM_001128834.3:c.560T>C (PLP1)	NP_001122306.1:p.Ile187Thr
NR_146558.2:n.432+4777A>G (RAB9B)
NR_146560.2:n.718+4777A>G (RAB9B)