Canonical Allele Identifier: CA414104236

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103788448T>C , CM000685.2:g.103788448T>C	GRCh38
NC_000023.10:g.103043377T>C , CM000685.1:g.103043377T>C	GRCh37
NC_000023.9:g.102930033T>C	NCBI36
NG_008863.2:g.16938T>C
NG_016452.2:g.48835A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.634T>C (PLP1) MANE Select	NP_000524.3:p.Trp212Arg
ENST00000621218.5:c.634T>C (PLP1) MANE Select	ENSP00000484450.1:p.Trp212Arg
NM_000533.4:c.634T>C (PLP1)	NP_000524.3:p.Trp212Arg
NM_001128834.2:c.634T>C (PLP1)	NP_001122306.1:p.Trp212Arg
NM_001128834.3:c.634T>C (PLP1)	NP_001122306.1:p.Trp212Arg
NM_001305004.1:c.469T>C (PLP1)	NP_001291933.1:p.Trp157Arg
NM_199478.2:c.529T>C (PLP1)	NP_955772.1:p.Trp177Arg
NM_199478.3:c.529T>C (PLP1)	NP_955772.1:p.Trp177Arg
NR_146558.1:n.457+4233A>G (RAB9B)
NR_146558.2:n.432+4233A>G (RAB9B)
NR_146560.1:n.743+4233A>G (RAB9B)
NR_146560.2:n.718+4233A>G (RAB9B)
ENST00000461231.5:n.445T>C (PLP1)
ENST00000466486.1:n.470T>C (PLP1)
ENST00000478642.5:n.615T>C (PLP1)
ENST00000485688.5:n.371T>C (PLP1)
ENST00000494119.1:n.180T>C (PLP1)
ENST00000612423.4:c.634T>C (PLP1)	ENSP00000481006.1:p.Trp212Arg
ENST00000619236.1:c.529T>C (PLP1)	ENSP00000477619.1:p.Trp177Arg
ENST00000621218.4:c.634T>C (PLP1)	ENSP00000484450.1:p.Trp212Arg
XR_244483.3:n.862+4233A>G