Canonical Allele Identifier: CA414103995

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787922C>A , CM000685.2:g.103787922C>A	GRCh38
NC_000023.10:g.103042851C>A , CM000685.1:g.103042851C>A	GRCh37
NC_000023.9:g.102929507C>A	NCBI36
NG_008863.2:g.16412C>A
NG_016452.2:g.49361G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.578C>A (PLP1) MANE Select	NP_000524.3:p.Thr193Asn
ENST00000621218.5:c.578C>A (PLP1) MANE Select	ENSP00000484450.1:p.Thr193Asn
NM_000533.4:c.578C>A (PLP1)	NP_000524.3:p.Thr193Asn
NM_001128834.2:c.578C>A (PLP1)	NP_001122306.1:p.Thr193Asn
NM_001128834.3:c.578C>A (PLP1)	NP_001122306.1:p.Thr193Asn
NM_001305004.1:c.413C>A (PLP1)	NP_001291933.1:p.Thr138Asn
NM_199478.2:c.473C>A (PLP1)	NP_955772.1:p.Thr158Asn
NM_199478.3:c.473C>A (PLP1)	NP_955772.1:p.Thr158Asn
NR_146558.1:n.457+4759G>T (RAB9B)
NR_146558.2:n.432+4759G>T (RAB9B)
NR_146560.1:n.743+4759G>T (RAB9B)
NR_146560.2:n.718+4759G>T (RAB9B)
ENST00000461231.5:n.389C>A (PLP1)
ENST00000466486.1:n.414C>A (PLP1)
ENST00000478642.5:n.559C>A (PLP1)
ENST00000479569.5:n.624C>A (PLP1)
ENST00000485688.5:n.315C>A (PLP1)
ENST00000494119.1:n.124C>A (PLP1)
ENST00000612423.4:c.578C>A (PLP1)	ENSP00000481006.1:p.Thr193Asn
ENST00000619236.1:c.473C>A (PLP1)	ENSP00000477619.1:p.Thr158Asn
ENST00000621218.4:c.578C>A (PLP1)	ENSP00000484450.1:p.Thr193Asn
XR_244483.3:n.862+4759G>T