Canonical Allele Identifier: CA414104638

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789372G>A , CM000685.2:g.103789372G>A	GRCh38
NC_000023.10:g.103044301G>A , CM000685.1:g.103044301G>A	GRCh37
NC_000023.9:g.102930957G>A	NCBI36
NG_008863.2:g.17862G>A
NG_016452.2:g.47911C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.736G>A (PLP1) MANE Select	NP_000524.3:p.Gly246Arg
ENST00000621218.5:c.736G>A (PLP1) MANE Select	ENSP00000484450.1:p.Gly246Arg
NM_000533.4:c.736G>A (PLP1)	NP_000524.3:p.Gly246Arg
NM_001128834.2:c.736G>A (PLP1)	NP_001122306.1:p.Gly246Arg
NM_001128834.3:c.736G>A (PLP1)	NP_001122306.1:p.Gly246Arg
NM_001305004.1:c.571G>A (PLP1)	NP_001291933.1:p.Gly191Arg
NM_199478.2:c.631G>A (PLP1)	NP_955772.1:p.Gly211Arg
NM_199478.3:c.631G>A (PLP1)	NP_955772.1:p.Gly211Arg
NR_146558.1:n.457+3309C>T (RAB9B)
NR_146558.2:n.432+3309C>T (RAB9B)
NR_146560.1:n.743+3309C>T (RAB9B)
NR_146560.2:n.718+3309C>T (RAB9B)
ENST00000461231.5:n.547G>A (PLP1)
ENST00000466486.1:n.572G>A (PLP1)
ENST00000485688.5:n.473G>A (PLP1)
ENST00000496836.1:n.466G>A (PLP1)
ENST00000612423.4:c.736G>A (PLP1)	ENSP00000481006.1:p.Gly246Arg
ENST00000619236.1:c.631G>A (PLP1)	ENSP00000477619.1:p.Gly211Arg
ENST00000621218.4:c.736G>A (PLP1)	ENSP00000484450.1:p.Gly246Arg
XR_244483.3:n.862+3309C>T