Canonical Allele Identifier: CA121354

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11090
• ClinVar RCV Id: RCV000011839 ; RCV000801130
• dbSNP Id: rs132630292
• MyVariant Identifiers: chrX:g.103041636G>A (hg19) ; chrX:g.103786707G>A (hg38)
• PubMed: PMID:9056547

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786707G>A , CM000685.2:g.103786707G>A	GRCh38
NC_000023.10:g.103041636G>A , CM000685.1:g.103041636G>A	GRCh37
NC_000023.9:g.102928292G>A	NCBI36
NG_008863.2:g.15197G>A
NG_016452.2:g.50576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.434G>A (PLP1) MANE Select	ENSP00000484450.1:p.Trp145Ter
ENST00000461231.5:n.264+86G>A (PLP1)
ENST00000465975.1:n.312-20G>A (PLP1)
ENST00000476160.1:n.413G>A (PLP1)
ENST00000478642.5:n.415G>A (PLP1)
ENST00000479569.5:n.499+86G>A (PLP1)
ENST00000485688.5:n.190+86G>A (PLP1)
ENST00000485931.5:n.512G>A (PLP1)
ENST00000612423.4:c.434G>A (PLP1)	ENSP00000481006.1:p.Trp145Ter
ENST00000619236.1:c.348+86G>A (PLP1)	ENSP00000477619.1:n.348+86G>A
ENST00000621218.4:c.434G>A (PLP1)	ENSP00000484450.1:p.Trp145Ter
NM_000533.4:c.434G>A (PLP1)	NP_000524.3:p.Trp145Ter
NM_001128834.2:c.434G>A (PLP1)	NP_001122306.1:p.Trp145Ter
NM_001305004.1:c.269G>A (PLP1)	NP_001291933.1:p.Trp90Ter
NM_199478.2:c.348+86G>A (PLP1)	NP_955772.1:n.348+86G>A
XR_244483.3:n.862+5974C>T
NR_146558.1:n.457+5974C>T (RAB9B)
NR_146560.1:n.743+5974C>T (RAB9B)
NM_000533.5:c.434G>A (PLP1) MANE Select	NP_000524.3:p.Trp145Ter
NM_199478.3:c.348+86G>A (PLP1)	NP_955772.1:n.348+86G>A
NM_001128834.3:c.434G>A (PLP1)	NP_001122306.1:p.Trp145Ter
NR_146558.2:n.432+5974C>T (RAB9B)
NR_146560.2:n.718+5974C>T (RAB9B)