Canonical Allele Identifier: CA236360

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 191252
• ClinVar RCV Id: RCV000171442 ; RCV003984826
• dbSNP Id: rs786205605
• MyVariant Identifiers: chrX:g.103043393G>A (hg19) ; chrX:g.103788464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103788464G>A , CM000685.2:g.103788464G>A	GRCh38
NC_000023.10:g.103043393G>A , CM000685.1:g.103043393G>A	GRCh37
NC_000023.9:g.102930049G>A	NCBI36
NG_008863.2:g.16954G>A
NG_016452.2:g.48819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.650G>A (PLP1) MANE Select	ENSP00000484450.1:p.Gly217Asp
ENST00000461231.5:n.461G>A (PLP1)
ENST00000466486.1:n.486G>A (PLP1)
ENST00000485688.5:n.387G>A (PLP1)
ENST00000494119.1:n.196G>A (PLP1)
ENST00000612423.4:c.650G>A (PLP1)	ENSP00000481006.1:p.Gly217Asp
ENST00000619236.1:c.545G>A (PLP1)	ENSP00000477619.1:p.Gly182Asp
ENST00000621218.4:c.650G>A (PLP1)	ENSP00000484450.1:p.Gly217Asp
NM_000533.4:c.650G>A (PLP1)	NP_000524.3:p.Gly217Asp
NM_001128834.2:c.650G>A (PLP1)	NP_001122306.1:p.Gly217Asp
NM_001305004.1:c.485G>A (PLP1)	NP_001291933.1:p.Gly162Asp
NM_199478.2:c.545G>A (PLP1)	NP_955772.1:p.Gly182Asp
XR_244483.3:n.862+4217C>T
NR_146558.1:n.457+4217C>T (RAB9B)
NR_146560.1:n.743+4217C>T (RAB9B)
NM_000533.5:c.650G>A (PLP1) MANE Select	NP_000524.3:p.Gly217Asp
NM_199478.3:c.545G>A (PLP1)	NP_955772.1:p.Gly182Asp
NM_001128834.3:c.650G>A (PLP1)	NP_001122306.1:p.Gly217Asp
NR_146558.2:n.432+4217C>T (RAB9B)
NR_146560.2:n.718+4217C>T (RAB9B)