Canonical Allele Identifier: CA10581371

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 235599
• ClinVar RCV Id: RCV000223963 ; RCV001854777
• dbSNP Id: rs878853076
• MyVariant Identifiers: chrX:g.103041590C>T (hg19) ; chrX:g.103786661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786661C>T , CM000685.2:g.103786661C>T	GRCh38
NC_000023.10:g.103041590C>T , CM000685.1:g.103041590C>T	GRCh37
NC_000023.9:g.102928246C>T	NCBI36
NG_008863.2:g.15151C>T
NG_016452.2:g.50622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.388C>T (PLP1) MANE Select	ENSP00000484450.1:p.His130Tyr
ENST00000455268.5:c.388C>T (PLP1)	ENSP00000409802.1:p.His130Tyr
ENST00000461231.5:n.264+40C>T (PLP1)
ENST00000465975.1:n.312-66C>T (PLP1)
ENST00000476160.1:n.367C>T (PLP1)
ENST00000478642.5:n.369C>T (PLP1)
ENST00000479569.5:n.499+40C>T (PLP1)
ENST00000485688.5:n.190+40C>T (PLP1)
ENST00000485931.5:n.466C>T (PLP1)
ENST00000494475.5:c.388C>T (PLP1)	ENSP00000480409.1:p.His130Tyr
ENST00000612423.4:c.388C>T (PLP1)	ENSP00000481006.1:p.His130Tyr
ENST00000619236.1:c.348+40C>T (PLP1)	ENSP00000477619.1:n.348+40C>T
ENST00000621218.4:c.388C>T (PLP1)	ENSP00000484450.1:p.His130Tyr
NM_000533.4:c.388C>T (PLP1)	NP_000524.3:p.His130Tyr
NM_001128834.2:c.388C>T (PLP1)	NP_001122306.1:p.His130Tyr
NM_001305004.1:c.223C>T (PLP1)	NP_001291933.1:p.His75Tyr
NM_199478.2:c.348+40C>T (PLP1)	NP_955772.1:n.348+40C>T
XR_244483.3:n.862+6020G>A
NR_146558.1:n.457+6020G>A (RAB9B)
NR_146560.1:n.743+6020G>A (RAB9B)
NM_000533.5:c.388C>T (PLP1) MANE Select	NP_000524.3:p.His130Tyr
NM_199478.3:c.348+40C>T (PLP1)	NP_955772.1:n.348+40C>T
NM_001128834.3:c.388C>T (PLP1)	NP_001122306.1:p.His130Tyr
NR_146558.2:n.432+6020G>A (RAB9B)
NR_146560.2:n.718+6020G>A (RAB9B)