Canonical Allele Identifier: CA414102769

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786634C>T , CM000685.2:g.103786634C>T	GRCh38
NC_000023.10:g.103041563C>T , CM000685.1:g.103041563C>T	GRCh37
NC_000023.9:g.102928219C>T	NCBI36
NG_008863.2:g.15124C>T
NG_016452.2:g.50649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.361C>T (PLP1) MANE Select	NP_000524.3:p.Gln121Ter
ENST00000621218.5:c.361C>T (PLP1) MANE Select	ENSP00000484450.1:p.Gln121Ter
NM_000533.4:c.361C>T (PLP1)	NP_000524.3:p.Gln121Ter
NM_001128834.2:c.361C>T (PLP1)	NP_001122306.1:p.Gln121Ter
NM_001128834.3:c.361C>T (PLP1)	NP_001122306.1:p.Gln121Ter
NM_001305004.1:c.196C>T (PLP1)	NP_001291933.1:p.Gln66Ter
NM_199478.2:c.348+13C>T (PLP1)	NP_955772.1:n.348+13C>T
NM_199478.3:c.348+13C>T (PLP1)	NP_955772.1:n.348+13C>T
NR_146558.1:n.457+6047G>A (RAB9B)
NR_146558.2:n.432+6047G>A (RAB9B)
NR_146560.1:n.743+6047G>A (RAB9B)
NR_146560.2:n.718+6047G>A (RAB9B)
ENST00000422393.5:c.361C>T (PLP1)	ENSP00000413931.1:p.Gln121Ter
ENST00000434483.5:c.361C>T (PLP1)	ENSP00000403335.1:p.Gln121Ter
ENST00000455268.5:c.361C>T (PLP1)	ENSP00000409802.1:p.Gln121Ter
ENST00000461231.5:n.264+13C>T (PLP1)
ENST00000465975.1:n.312-93C>T (PLP1)
ENST00000476160.1:n.340C>T (PLP1)
ENST00000478642.5:n.342C>T (PLP1)
ENST00000479569.5:n.499+13C>T (PLP1)
ENST00000485688.5:n.190+13C>T (PLP1)
ENST00000485931.5:n.439C>T (PLP1)
ENST00000494475.5:c.361C>T (PLP1)	ENSP00000480409.1:p.Gln121Ter
ENST00000612423.4:c.361C>T (PLP1)	ENSP00000481006.1:p.Gln121Ter
ENST00000619236.1:c.348+13C>T (PLP1)	ENSP00000477619.1:n.348+13C>T
ENST00000619257.4:n.591C>T (PLP1)
ENST00000621218.4:c.361C>T (PLP1)	ENSP00000484450.1:p.Gln121Ter
XR_244483.3:n.862+6047G>A