Canonical Allele Identifier: CA414104364

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103788484C>A , CM000685.2:g.103788484C>A	GRCh38
NC_000023.10:g.103043413C>A , CM000685.1:g.103043413C>A	GRCh37
NC_000023.9:g.102930069C>A	NCBI36
NG_008863.2:g.16974C>A
NG_016452.2:g.48799G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.670C>A (PLP1) MANE Select	NP_000524.3:p.Leu224Ile
ENST00000621218.5:c.670C>A (PLP1) MANE Select	ENSP00000484450.1:p.Leu224Ile
NM_000533.4:c.670C>A (PLP1)	NP_000524.3:p.Leu224Ile
NM_001128834.2:c.670C>A (PLP1)	NP_001122306.1:p.Leu224Ile
NM_001128834.3:c.670C>A (PLP1)	NP_001122306.1:p.Leu224Ile
NM_001305004.1:c.505C>A (PLP1)	NP_001291933.1:p.Leu169Ile
NM_199478.2:c.565C>A (PLP1)	NP_955772.1:p.Leu189Ile
NM_199478.3:c.565C>A (PLP1)	NP_955772.1:p.Leu189Ile
NR_146558.1:n.457+4197G>T (RAB9B)
NR_146558.2:n.432+4197G>T (RAB9B)
NR_146560.1:n.743+4197G>T (RAB9B)
NR_146560.2:n.718+4197G>T (RAB9B)
ENST00000461231.5:n.481C>A (PLP1)
ENST00000466486.1:n.506C>A (PLP1)
ENST00000485688.5:n.407C>A (PLP1)
ENST00000494119.1:n.216C>A (PLP1)
ENST00000612423.4:c.670C>A (PLP1)	ENSP00000481006.1:p.Leu224Ile
ENST00000619236.1:c.565C>A (PLP1)	ENSP00000477619.1:p.Leu189Ile
ENST00000621218.4:c.670C>A (PLP1)	ENSP00000484450.1:p.Leu224Ile
XR_244483.3:n.862+4197G>T