Canonical Allele Identifier: CA2499226290

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 989198
• ClinVar RCV Id: RCV001391608
• dbSNP Id: rs2147762900

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785604_103785611dup , CM000685.2:g.103785604_103785611dup	GRCh38
NC_000023.10:g.103040533_103040540dup , CM000685.1:g.103040533_103040540dup	GRCh37
NC_000023.9:g.102927189_102927196dup	NCBI36
NG_008863.2:g.14094_14101dup
NG_016452.2:g.51673_51680dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.27_34dup (PLP1) MANE Select	ENSP00000484450.1:p.Val12AspfsTer4
ENST00000422393.5:c.27_34dup (PLP1)	ENSP00000413931.1:p.Val12AspfsTer4
ENST00000433491.5:c.27_34dup (PLP1)	ENSP00000393391.1:p.Val12AspfsTer4
ENST00000434483.5:c.27_34dup (PLP1)	ENSP00000403335.1:p.Val12AspfsTer4
ENST00000443502.5:c.27_34dup (PLP1)	ENSP00000391853.1:p.Val12AspfsTer4
ENST00000455268.5:c.27_34dup (PLP1)	ENSP00000409802.1:p.Val12AspfsTer4
ENST00000464776.5:n.291_298dup (PLP1)
ENST00000465975.1:n.149_156dup (PLP1)
ENST00000479569.5:n.178_185dup (PLP1)
ENST00000480325.1:n.106_113dup (PLP1)
ENST00000485931.5:n.105_112dup (PLP1)
ENST00000494475.5:c.27_34dup (PLP1)	ENSP00000480409.1:p.Val12AspfsTer4
ENST00000495678.5:n.329_336dup (PLP1)
ENST00000612423.4:c.27_34dup (PLP1)	ENSP00000481006.1:p.Val12AspfsTer4
ENST00000619236.1:c.27_34dup (PLP1)	ENSP00000477619.1:p.Val12AspfsTer4
ENST00000619257.4:n.257_264dup (PLP1)
ENST00000621218.4:c.27_34dup (PLP1)	ENSP00000484450.1:p.Val12AspfsTer4
NM_000533.4:c.27_34dup (PLP1)	NP_000524.3:p.Val12AspfsTer4
NM_001128834.2:c.27_34dup (PLP1)	NP_001122306.1:p.Val12AspfsTer4
NM_001305004.1:c.5-143_5-136dup (PLP1)	NP_001291933.1:n.5-143_5-136dup
NM_199478.2:c.27_34dup (PLP1)	NP_955772.1:p.Val12AspfsTer4
XR_244483.3:n.862+7071_862+7078dup
NR_146558.1:n.457+7071_457+7078dup (RAB9B)
NR_146560.1:n.743+7071_743+7078dup (RAB9B)
NM_000533.5:c.27_34dup (PLP1) MANE Select	NP_000524.3:p.Val12AspfsTer4
NM_199478.3:c.27_34dup (PLP1)	NP_955772.1:p.Val12AspfsTer4
NM_001128834.3:c.27_34dup (PLP1)	NP_001122306.1:p.Val12AspfsTer4
NR_146558.2:n.432+7071_432+7078dup (RAB9B)
NR_146560.2:n.718+7071_718+7078dup (RAB9B)