Canonical Allele Identifier: CA2697544672

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 2704479
• ClinVar RCV Id: RCV003512892

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785753_103785754dup , CM000685.2:g.103785753_103785754dup	GRCh38
NC_000023.10:g.103040682_103040683dup , CM000685.1:g.103040682_103040683dup	GRCh37
NC_000023.9:g.102927338_102927339dup	NCBI36
NG_008863.2:g.14243_14244dup
NG_016452.2:g.51530_51531dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000621218.5:c.176_177dup (PLP1) MANE Select	ENSP00000484450.1:p.Tyr60SerfsTer6
ENST00000422393.5:c.176_177dup (PLP1)	ENSP00000413931.1:p.Tyr60SerfsTer6
ENST00000433491.5:c.176_177dup (PLP1)	ENSP00000393391.1:p.Tyr60SerfsTer6
ENST00000434483.5:c.176_177dup (PLP1)	ENSP00000403335.1:p.Tyr60SerfsTer6
ENST00000443502.5:c.176_177dup (PLP1)	ENSP00000391853.1:p.Tyr60SerfsTer6
ENST00000455268.5:c.176_177dup (PLP1)	ENSP00000409802.1:p.Tyr60SerfsTer6
ENST00000464776.5:n.440_441dup (PLP1)
ENST00000465975.1:n.298_299dup (PLP1)
ENST00000479569.5:n.327_328dup (PLP1)
ENST00000480325.1:n.255_256dup (PLP1)
ENST00000485931.5:n.254_255dup (PLP1)
ENST00000494475.5:c.176_177dup (PLP1)	ENSP00000480409.1:p.Tyr60SerfsTer6
ENST00000495678.5:n.478_479dup (PLP1)
ENST00000612423.4:c.176_177dup (PLP1)	ENSP00000481006.1:p.Tyr60SerfsTer6
ENST00000619236.1:c.176_177dup (PLP1)	ENSP00000477619.1:p.Tyr60SerfsTer6
ENST00000619257.4:n.406_407dup (PLP1)
ENST00000621218.4:c.176_177dup (PLP1)	ENSP00000484450.1:p.Tyr60SerfsTer6
NM_000533.4:c.176_177dup (PLP1)	NP_000524.3:p.Tyr60SerfsTer6
NM_001128834.2:c.176_177dup (PLP1)	NP_001122306.1:p.Tyr60SerfsTer6
NM_001305004.1:c.11_12dup (PLP1)	NP_001291933.1:p.Tyr5SerfsTer6
NM_199478.2:c.176_177dup (PLP1)	NP_955772.1:p.Tyr60SerfsTer6
XR_244483.3:n.862+6928_862+6929dup
NR_146558.1:n.457+6928_457+6929dup (RAB9B)
NR_146560.1:n.743+6928_743+6929dup (RAB9B)
NM_000533.5:c.176_177dup (PLP1) MANE Select	NP_000524.3:p.Tyr60SerfsTer6
NM_199478.3:c.176_177dup (PLP1)	NP_955772.1:p.Tyr60SerfsTer6
NM_001128834.3:c.176_177dup (PLP1)	NP_001122306.1:p.Tyr60SerfsTer6
NR_146558.2:n.432+6928_432+6929dup (RAB9B)
NR_146560.2:n.718+6928_718+6929dup (RAB9B)