Canonical Allele Identifier: CA414103896

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787897C>T , CM000685.2:g.103787897C>T	GRCh38
NC_000023.10:g.103042826C>T , CM000685.1:g.103042826C>T	GRCh37
NC_000023.9:g.102929482C>T	NCBI36
NG_008863.2:g.16387C>T
NG_016452.2:g.49386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.553C>T (PLP1) MANE Select	NP_000524.3:p.Gln185Ter
ENST00000621218.5:c.553C>T (PLP1) MANE Select	ENSP00000484450.1:p.Gln185Ter
NM_000533.4:c.553C>T (PLP1)	NP_000524.3:p.Gln185Ter
NM_001128834.2:c.553C>T (PLP1)	NP_001122306.1:p.Gln185Ter
NM_001128834.3:c.553C>T (PLP1)	NP_001122306.1:p.Gln185Ter
NM_001305004.1:c.388C>T (PLP1)	NP_001291933.1:p.Gln130Ter
NM_199478.2:c.448C>T (PLP1)	NP_955772.1:p.Gln150Ter
NM_199478.3:c.448C>T (PLP1)	NP_955772.1:p.Gln150Ter
NR_146558.1:n.457+4784G>A (RAB9B)
NR_146558.2:n.432+4784G>A (RAB9B)
NR_146560.1:n.743+4784G>A (RAB9B)
NR_146560.2:n.718+4784G>A (RAB9B)
ENST00000461231.5:n.364C>T (PLP1)
ENST00000466486.1:n.389C>T (PLP1)
ENST00000478642.5:n.534C>T (PLP1)
ENST00000479569.5:n.599C>T (PLP1)
ENST00000485688.5:n.290C>T (PLP1)
ENST00000494119.1:n.99C>T (PLP1)
ENST00000612423.4:c.553C>T (PLP1)	ENSP00000481006.1:p.Gln185Ter
ENST00000619236.1:c.448C>T (PLP1)	ENSP00000477619.1:p.Gln150Ter
ENST00000621218.4:c.553C>T (PLP1)	ENSP00000484450.1:p.Gln185Ter
XR_244483.3:n.862+4784G>A