Canonical Allele Identifier: CA255678

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11075
• ClinVar RCV Id: RCV000011824 ; RCV001851798
• dbSNP Id: rs11543022
• MyVariant Identifiers: chrX:g.103040550C>T (hg19) ; chrX:g.103785621C>T (hg38)
• PubMed: PMID:2480601

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785621C>T , CM000685.2:g.103785621C>T	GRCh38
NC_000023.10:g.103040550C>T , CM000685.1:g.103040550C>T	GRCh37
NC_000023.9:g.102927206C>T	NCBI36
NG_008863.2:g.14111C>T
NG_016452.2:g.51662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.44C>T (PLP1) MANE Select	ENSP00000484450.1:p.Pro15Leu
ENST00000422393.5:c.44C>T (PLP1)	ENSP00000413931.1:p.Pro15Leu
ENST00000433491.5:c.44C>T (PLP1)	ENSP00000393391.1:p.Pro15Leu
ENST00000434483.5:c.44C>T (PLP1)	ENSP00000403335.1:p.Pro15Leu
ENST00000443502.5:c.44C>T (PLP1)	ENSP00000391853.1:p.Pro15Leu
ENST00000455268.5:c.44C>T (PLP1)	ENSP00000409802.1:p.Pro15Leu
ENST00000464776.5:n.308C>T (PLP1)
ENST00000465975.1:n.166C>T (PLP1)
ENST00000479569.5:n.195C>T (PLP1)
ENST00000480325.1:n.123C>T (PLP1)
ENST00000485931.5:n.122C>T (PLP1)
ENST00000494475.5:c.44C>T (PLP1)	ENSP00000480409.1:p.Pro15Leu
ENST00000495678.5:n.346C>T (PLP1)
ENST00000612423.4:c.44C>T (PLP1)	ENSP00000481006.1:p.Pro15Leu
ENST00000619236.1:c.44C>T (PLP1)	ENSP00000477619.1:p.Pro15Leu
ENST00000619257.4:n.274C>T (PLP1)
ENST00000621218.4:c.44C>T (PLP1)	ENSP00000484450.1:p.Pro15Leu
NM_000533.4:c.44C>T (PLP1)	NP_000524.3:p.Pro15Leu
NM_001128834.2:c.44C>T (PLP1)	NP_001122306.1:p.Pro15Leu
NM_001305004.1:c.5-126C>T (PLP1)	NP_001291933.1:n.5-126C>T
NM_199478.2:c.44C>T (PLP1)	NP_955772.1:p.Pro15Leu
XR_244483.3:n.862+7060G>A
NR_146558.1:n.457+7060G>A (RAB9B)
NR_146560.1:n.743+7060G>A (RAB9B)
NM_000533.5:c.44C>T (PLP1) MANE Select	NP_000524.3:p.Pro15Leu
NM_199478.3:c.44C>T (PLP1)	NP_955772.1:p.Pro15Leu
NM_001128834.3:c.44C>T (PLP1)	NP_001122306.1:p.Pro15Leu
NR_146558.2:n.432+7060G>A (RAB9B)
NR_146560.2:n.718+7060G>A (RAB9B)