Canonical Allele Identifier: CA2449053037

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 1023623
• ClinVar RCV Id: RCV001323702
• dbSNP Id: rs2074497991

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786511_103786513del , CM000685.2:g.103786511_103786513del	GRCh38
NC_000023.10:g.103041440_103041442del , CM000685.1:g.103041440_103041442del	GRCh37
NC_000023.9:g.102928096_102928098del	NCBI36
NG_008863.2:g.15001_15003del
NG_016452.2:g.50776_50778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.238_240del (PLP1) MANE Select	ENSP00000484450.1:p.Phe80del
ENST00000422393.5:c.238_240del (PLP1)	ENSP00000413931.1:p.Phe80del
ENST00000433491.5:c.238_240del (PLP1)	ENSP00000393391.1:p.Phe80del
ENST00000434483.5:c.238_240del (PLP1)	ENSP00000403335.1:p.Phe80del
ENST00000443502.5:c.238_240del (PLP1)	ENSP00000391853.1:p.Phe80del
ENST00000455268.5:c.238_240del (PLP1)	ENSP00000409802.1:p.Phe80del
ENST00000461231.5:n.154_156del (PLP1)
ENST00000464776.5:n.502_504del (PLP1)
ENST00000465975.1:n.312-216_312-214del (PLP1)
ENST00000476160.1:n.217_219del (PLP1)
ENST00000478642.5:n.219_221del (PLP1)
ENST00000479569.5:n.389_391del (PLP1)
ENST00000485688.5:n.80_82del (PLP1)
ENST00000485931.5:n.316_318del (PLP1)
ENST00000494475.5:c.238_240del (PLP1)	ENSP00000480409.1:p.Phe80del
ENST00000495678.5:n.540_542del (PLP1)
ENST00000612423.4:c.238_240del (PLP1)	ENSP00000481006.1:p.Phe80del
ENST00000619236.1:c.238_240del (PLP1)	ENSP00000477619.1:p.Phe80del
ENST00000619257.4:n.468_470del (PLP1)
ENST00000621218.4:c.238_240del (PLP1)	ENSP00000484450.1:p.Phe80del
NM_000533.4:c.238_240del (PLP1)	NP_000524.3:p.Phe80del
NM_001128834.2:c.238_240del (PLP1)	NP_001122306.1:p.Phe80del
NM_001305004.1:c.73_75del (PLP1)	NP_001291933.1:p.Phe25del
NM_199478.2:c.238_240del (PLP1)	NP_955772.1:p.Phe80del
XR_244483.3:n.862+6174_862+6176del
NR_146558.1:n.457+6174_457+6176del (RAB9B)
NR_146560.1:n.743+6174_743+6176del (RAB9B)
NM_000533.5:c.238_240del (PLP1) MANE Select	NP_000524.3:p.Phe80del
NM_199478.3:c.238_240del (PLP1)	NP_955772.1:p.Phe80del
NM_001128834.3:c.238_240del (PLP1)	NP_001122306.1:p.Phe80del
NR_146558.2:n.432+6174_432+6176del (RAB9B)
NR_146560.2:n.718+6174_718+6176del (RAB9B)