Canonical Allele Identifier: CA414105056

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 488580
• ClinVar RCV Id: RCV000578343
• dbSNP Id: rs1556273167
• MyVariant Identifiers: chrX:g.103045509C>T (hg19) ; chrX:g.103790581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103790581C>T , CM000685.2:g.103790581C>T	GRCh38
NC_000023.10:g.103045509C>T , CM000685.1:g.103045509C>T	GRCh37
NC_000023.9:g.102932165C>T	NCBI36
NG_008863.2:g.19071C>T
NG_016452.2:g.46702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.817C>T (PLP1) MANE Select	ENSP00000484450.1:p.Arg273Ter
ENST00000466486.1:n.653C>T (PLP1)
ENST00000485688.5:n.554C>T (PLP1)
ENST00000496836.1:n.547C>T (PLP1)
ENST00000612423.4:c.817C>T (PLP1)	ENSP00000481006.1:p.Arg273Ter
ENST00000619236.1:c.712C>T (PLP1)	ENSP00000477619.1:p.Arg238Ter
ENST00000621218.4:c.817C>T (PLP1)	ENSP00000484450.1:p.Arg273Ter
NM_000533.4:c.817C>T (PLP1)	NP_000524.3:p.Arg273Ter
NM_001128834.2:c.817C>T (PLP1)	NP_001122306.1:p.Arg273Ter
NM_001305004.1:c.652C>T (PLP1)	NP_001291933.1:p.Arg218Ter
NM_199478.2:c.712C>T (PLP1)	NP_955772.1:p.Arg238Ter
XR_244483.3:n.862+2100G>A
NR_146558.1:n.457+2100G>A (RAB9B)
NR_146560.1:n.743+2100G>A (RAB9B)
NM_000533.5:c.817C>T (PLP1) MANE Select	NP_000524.3:p.Arg273Ter
NM_199478.3:c.712C>T (PLP1)	NP_955772.1:p.Arg238Ter
NM_001128834.3:c.817C>T (PLP1)	NP_001122306.1:p.Arg273Ter
NR_146558.2:n.432+2100G>A (RAB9B)
NR_146560.2:n.718+2100G>A (RAB9B)