Canonical Allele Identifier: CA518092061

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786714A>T , CM000685.2:g.103786714A>T	GRCh38
NC_000023.10:g.103041643A>T , CM000685.1:g.103041643A>T	GRCh37
NC_000023.9:g.102928299A>T	NCBI36
NG_008863.2:g.15204A>T
NG_016452.2:g.50569T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.441A>T (PLP1) MANE Select	NP_000524.3:p.Gly147=
ENST00000621218.5:c.441A>T (PLP1) MANE Select	ENSP00000484450.1:p.Gly147=
NM_000533.4:c.441A>T (PLP1)	NP_000524.3:p.Gly147=
NM_001128834.2:c.441A>T (PLP1)	NP_001122306.1:p.Gly147=
NM_001128834.3:c.441A>T (PLP1)	NP_001122306.1:p.Gly147=
NM_001305004.1:c.276A>T (PLP1)	NP_001291933.1:p.Gly92=
NM_199478.2:c.348+93A>T (PLP1)	NP_955772.1:n.348+93A>T
NM_199478.3:c.348+93A>T (PLP1)	NP_955772.1:n.348+93A>T
NR_146558.1:n.457+5967T>A (RAB9B)
NR_146558.2:n.432+5967T>A (RAB9B)
NR_146560.1:n.743+5967T>A (RAB9B)
NR_146560.2:n.718+5967T>A (RAB9B)
ENST00000461231.5:n.264+93A>T (PLP1)
ENST00000465975.1:n.312-13A>T (PLP1)
ENST00000476160.1:n.420A>T (PLP1)
ENST00000478642.5:n.422A>T (PLP1)
ENST00000479569.5:n.499+93A>T (PLP1)
ENST00000485688.5:n.190+93A>T (PLP1)
ENST00000485931.5:n.519A>T (PLP1)
ENST00000612423.4:c.441A>T (PLP1)	ENSP00000481006.1:p.Gly147=
ENST00000619236.1:c.348+93A>T (PLP1)	ENSP00000477619.1:n.348+93A>T
ENST00000621218.4:c.441A>T (PLP1)	ENSP00000484450.1:p.Gly147=
XR_244483.3:n.862+5967T>A