Canonical Allele Identifier: CA414102877

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786682C>G , CM000685.2:g.103786682C>G	GRCh38
NC_000023.10:g.103041611C>G , CM000685.1:g.103041611C>G	GRCh37
NC_000023.9:g.102928267C>G	NCBI36
NG_008863.2:g.15172C>G
NG_016452.2:g.50601G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.409C>G (PLP1) MANE Select	NP_000524.3:p.Arg137Gly
ENST00000621218.5:c.409C>G (PLP1) MANE Select	ENSP00000484450.1:p.Arg137Gly
NM_000533.4:c.409C>G (PLP1)	NP_000524.3:p.Arg137Gly
NM_001128834.2:c.409C>G (PLP1)	NP_001122306.1:p.Arg137Gly
NM_001128834.3:c.409C>G (PLP1)	NP_001122306.1:p.Arg137Gly
NM_001305004.1:c.244C>G (PLP1)	NP_001291933.1:p.Arg82Gly
NM_199478.2:c.348+61C>G (PLP1)	NP_955772.1:n.348+61C>G
NM_199478.3:c.348+61C>G (PLP1)	NP_955772.1:n.348+61C>G
NR_146558.1:n.457+5999G>C (RAB9B)
NR_146558.2:n.432+5999G>C (RAB9B)
NR_146560.1:n.743+5999G>C (RAB9B)
NR_146560.2:n.718+5999G>C (RAB9B)
ENST00000455268.5:c.409C>G (PLP1)
ENST00000461231.5:n.264+61C>G (PLP1)
ENST00000465975.1:n.312-45C>G (PLP1)
ENST00000476160.1:n.388C>G (PLP1)
ENST00000478642.5:n.390C>G (PLP1)
ENST00000479569.5:n.499+61C>G (PLP1)
ENST00000485688.5:n.190+61C>G (PLP1)
ENST00000485931.5:n.487C>G (PLP1)
ENST00000494475.5:c.409C>G (PLP1)
ENST00000612423.4:c.409C>G (PLP1)	ENSP00000481006.1:p.Arg137Gly
ENST00000619236.1:c.348+61C>G (PLP1)	ENSP00000477619.1:n.348+61C>G
ENST00000621218.4:c.409C>G (PLP1)	ENSP00000484450.1:p.Arg137Gly
XR_244483.3:n.862+5999G>C