Canonical Allele Identifier: CA414104099

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787952A>G , CM000685.2:g.103787952A>G	GRCh38
NC_000023.10:g.103042881A>G , CM000685.1:g.103042881A>G	GRCh37
NC_000023.9:g.102929537A>G	NCBI36
NG_008863.2:g.16442A>G
NG_016452.2:g.49331T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.608A>G (PLP1) MANE Select	NP_000524.3:p.Asp203Gly
ENST00000621218.5:c.608A>G (PLP1) MANE Select	ENSP00000484450.1:p.Asp203Gly
NM_000533.4:c.608A>G (PLP1)	NP_000524.3:p.Asp203Gly
NM_001128834.2:c.608A>G (PLP1)	NP_001122306.1:p.Asp203Gly
NM_001128834.3:c.608A>G (PLP1)	NP_001122306.1:p.Asp203Gly
NM_001305004.1:c.443A>G (PLP1)	NP_001291933.1:p.Asp148Gly
NM_199478.2:c.503A>G (PLP1)	NP_955772.1:p.Asp168Gly
NM_199478.3:c.503A>G (PLP1)	NP_955772.1:p.Asp168Gly
NR_146558.1:n.457+4729T>C (RAB9B)
NR_146558.2:n.432+4729T>C (RAB9B)
NR_146560.1:n.743+4729T>C (RAB9B)
NR_146560.2:n.718+4729T>C (RAB9B)
ENST00000461231.5:n.419A>G (PLP1)
ENST00000466486.1:n.444A>G (PLP1)
ENST00000478642.5:n.589A>G (PLP1)
ENST00000479569.5:n.654A>G (PLP1)
ENST00000485688.5:n.345A>G (PLP1)
ENST00000494119.1:n.154A>G (PLP1)
ENST00000612423.4:c.608A>G (PLP1)	ENSP00000481006.1:p.Asp203Gly
ENST00000619236.1:c.503A>G (PLP1)	ENSP00000477619.1:p.Asp168Gly
ENST00000621218.4:c.608A>G (PLP1)	ENSP00000484450.1:p.Asp203Gly
XR_244483.3:n.862+4729T>C