Canonical Allele Identifier: CA121357

Linked Data

ClinVar Variation Id: 11091
ClinVar RCV Id: RCV000011840
dbSNP Id: rs132630293

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103789361C>T , CM000685.2:g.103789361C>T GRCh38
NC_000023.10:g.103044290C>T , CM000685.1:g.103044290C>T GRCh37
NC_000023.9:g.102930946C>T NCBI36
NG_008863.2:g.17851C>T
NG_016452.2:g.47922G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000621218.5:c.725C>T (PLP1) MANE Select ENSP00000484450.1:p.Ala242Val
ENST00000461231.5:n.536C>T (PLP1)
ENST00000466486.1:n.561C>T (PLP1)
ENST00000485688.5:n.462C>T (PLP1)
ENST00000496836.1:n.455C>T (PLP1)
ENST00000612423.4:c.725C>T (PLP1) ENSP00000481006.1:p.Ala242Val
ENST00000619236.1:c.620C>T (PLP1) ENSP00000477619.1:p.Ala207Val
ENST00000621218.4:c.725C>T (PLP1) ENSP00000484450.1:p.Ala242Val
NM_000533.4:c.725C>T (PLP1) NP_000524.3:p.Ala242Val
NM_001128834.2:c.725C>T (PLP1) NP_001122306.1:p.Ala242Val
NM_001305004.1:c.560C>T (PLP1) NP_001291933.1:p.Ala187Val
NM_199478.2:c.620C>T (PLP1) NP_955772.1:p.Ala207Val
XR_244483.3:n.862+3320G>A
NR_146558.1:n.457+3320G>A (RAB9B)
NR_146560.1:n.743+3320G>A (RAB9B)
NM_000533.5:c.725C>T (PLP1) MANE Select NP_000524.3:p.Ala242Val
NM_199478.3:c.620C>T (PLP1) NP_955772.1:p.Ala207Val
NM_001128834.3:c.725C>T (PLP1) NP_001122306.1:p.Ala242Val
NR_146558.2:n.432+3320G>A (RAB9B)
NR_146560.2:n.718+3320G>A (RAB9B)