Canonical Allele Identifier: CA414102119

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 2117345
• ClinVar RCV Id: RCV003039156
• MyVariant Identifiers: chrX:g.103040622C>A (hg19) ; chrX:g.103785693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785693C>A , CM000685.2:g.103785693C>A	GRCh38
NC_000023.10:g.103040622C>A , CM000685.1:g.103040622C>A	GRCh37
NC_000023.9:g.102927278C>A	NCBI36
NG_008863.2:g.14183C>A
NG_016452.2:g.51590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.116C>A (PLP1) MANE Select	ENSP00000484450.1:p.Ala39Asp
ENST00000422393.5:c.116C>A (PLP1)	ENSP00000413931.1:p.Ala39Asp
ENST00000433491.5:c.116C>A (PLP1)	ENSP00000393391.1:p.Ala39Asp
ENST00000434483.5:c.116C>A (PLP1)	ENSP00000403335.1:p.Ala39Asp
ENST00000443502.5:c.116C>A (PLP1)	ENSP00000391853.1:p.Ala39Asp
ENST00000455268.5:c.116C>A (PLP1)	ENSP00000409802.1:p.Ala39Asp
ENST00000464776.5:n.380C>A (PLP1)
ENST00000465975.1:n.238C>A (PLP1)
ENST00000479569.5:n.267C>A (PLP1)
ENST00000480325.1:n.195C>A (PLP1)
ENST00000485931.5:n.194C>A (PLP1)
ENST00000494475.5:c.116C>A (PLP1)	ENSP00000480409.1:p.Ala39Asp
ENST00000495678.5:n.418C>A (PLP1)
ENST00000612423.4:c.116C>A (PLP1)	ENSP00000481006.1:p.Ala39Asp
ENST00000619236.1:c.116C>A (PLP1)	ENSP00000477619.1:p.Ala39Asp
ENST00000619257.4:n.346C>A (PLP1)
ENST00000621218.4:c.116C>A (PLP1)	ENSP00000484450.1:p.Ala39Asp
NM_000533.4:c.116C>A (PLP1)	NP_000524.3:p.Ala39Asp
NM_001128834.2:c.116C>A (PLP1)	NP_001122306.1:p.Ala39Asp
NM_001305004.1:c.5-54C>A (PLP1)	NP_001291933.1:n.5-54C>A
NM_199478.2:c.116C>A (PLP1)	NP_955772.1:p.Ala39Asp
XR_244483.3:n.862+6988G>T
NR_146558.1:n.457+6988G>T (RAB9B)
NR_146560.1:n.743+6988G>T (RAB9B)
NM_000533.5:c.116C>A (PLP1) MANE Select	NP_000524.3:p.Ala39Asp
NM_199478.3:c.116C>A (PLP1)	NP_955772.1:p.Ala39Asp
NM_001128834.3:c.116C>A (PLP1)	NP_001122306.1:p.Ala39Asp
NR_146558.2:n.432+6988G>T (RAB9B)
NR_146560.2:n.718+6988G>T (RAB9B)