Canonical Allele Identifier: CA16616406

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 405941
• ClinVar RCV Id: RCV000463096 ; RCV000681649 ; RCV003313955
• dbSNP Id: rs1060500909
• MyVariant Identifiers: chrX:g.103040646T>C (hg19) ; chrX:g.103785717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785717T>C , CM000685.2:g.103785717T>C	GRCh38
NC_000023.10:g.103040646T>C , CM000685.1:g.103040646T>C	GRCh37
NC_000023.9:g.102927302T>C	NCBI36
NG_008863.2:g.14207T>C
NG_016452.2:g.51566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.140T>C (PLP1) MANE Select	ENSP00000484450.1:p.Ile47Thr
ENST00000422393.5:c.140T>C (PLP1)	ENSP00000413931.1:p.Ile47Thr
ENST00000433491.5:c.140T>C (PLP1)	ENSP00000393391.1:p.Ile47Thr
ENST00000434483.5:c.140T>C (PLP1)	ENSP00000403335.1:p.Ile47Thr
ENST00000443502.5:c.140T>C (PLP1)	ENSP00000391853.1:p.Ile47Thr
ENST00000455268.5:c.140T>C (PLP1)	ENSP00000409802.1:p.Ile47Thr
ENST00000464776.5:n.404T>C (PLP1)
ENST00000465975.1:n.262T>C (PLP1)
ENST00000479569.5:n.291T>C (PLP1)
ENST00000480325.1:n.219T>C (PLP1)
ENST00000485931.5:n.218T>C (PLP1)
ENST00000494475.5:c.140T>C (PLP1)	ENSP00000480409.1:p.Ile47Thr
ENST00000495678.5:n.442T>C (PLP1)
ENST00000612423.4:c.140T>C (PLP1)	ENSP00000481006.1:p.Ile47Thr
ENST00000619236.1:c.140T>C (PLP1)	ENSP00000477619.1:p.Ile47Thr
ENST00000619257.4:n.370T>C (PLP1)
ENST00000621218.4:c.140T>C (PLP1)	ENSP00000484450.1:p.Ile47Thr
NM_000533.4:c.140T>C (PLP1)	NP_000524.3:p.Ile47Thr
NM_001128834.2:c.140T>C (PLP1)	NP_001122306.1:p.Ile47Thr
NM_001305004.1:c.5-30T>C (PLP1)	NP_001291933.1:n.5-30T>C
NM_199478.2:c.140T>C (PLP1)	NP_955772.1:p.Ile47Thr
XR_244483.3:n.862+6964A>G
NR_146558.1:n.457+6964A>G (RAB9B)
NR_146560.1:n.743+6964A>G (RAB9B)
NM_000533.5:c.140T>C (PLP1) MANE Select	NP_000524.3:p.Ile47Thr
NM_199478.3:c.140T>C (PLP1)	NP_955772.1:p.Ile47Thr
NM_001128834.3:c.140T>C (PLP1)	NP_001122306.1:p.Ile47Thr
NR_146558.2:n.432+6964A>G (RAB9B)
NR_146560.2:n.718+6964A>G (RAB9B)