Canonical Allele Identifier: CA414102442

Gene: PLP1 RAB9B

Linked Data

• MyVariant Identifiers: chrX:g.103041414T>A (hg19) ; chrX:g.103786485T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786485T>A , CM000685.2:g.103786485T>A	GRCh38
NC_000023.10:g.103041414T>A , CM000685.1:g.103041414T>A	GRCh37
NC_000023.9:g.102928070T>A	NCBI36
NG_008863.2:g.14975T>A
NG_016452.2:g.50798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.212T>A (PLP1) MANE Select	ENSP00000484450.1:p.Val71Asp
ENST00000422393.5:c.212T>A (PLP1)	ENSP00000413931.1:p.Val71Asp
ENST00000433491.5:c.212T>A (PLP1)	ENSP00000393391.1:p.Val71Asp
ENST00000434483.5:c.212T>A (PLP1)	ENSP00000403335.1:p.Val71Asp
ENST00000443502.5:c.212T>A (PLP1)	ENSP00000391853.1:p.Val71Asp
ENST00000455268.5:c.212T>A (PLP1)	ENSP00000409802.1:p.Val71Asp
ENST00000461231.5:n.128T>A (PLP1)
ENST00000464776.5:n.476T>A (PLP1)
ENST00000465975.1:n.312-242T>A (PLP1)
ENST00000476160.1:n.191T>A (PLP1)
ENST00000478642.5:n.193T>A (PLP1)
ENST00000479569.5:n.363T>A (PLP1)
ENST00000485688.5:n.54T>A (PLP1)
ENST00000485931.5:n.290T>A (PLP1)
ENST00000494475.5:c.212T>A (PLP1)	ENSP00000480409.1:p.Val71Asp
ENST00000495678.5:n.514T>A (PLP1)
ENST00000612423.4:c.212T>A (PLP1)	ENSP00000481006.1:p.Val71Asp
ENST00000619236.1:c.212T>A (PLP1)	ENSP00000477619.1:p.Val71Asp
ENST00000619257.4:n.442T>A (PLP1)
ENST00000621218.4:c.212T>A (PLP1)	ENSP00000484450.1:p.Val71Asp
NM_000533.4:c.212T>A (PLP1)	NP_000524.3:p.Val71Asp
NM_001128834.2:c.212T>A (PLP1)	NP_001122306.1:p.Val71Asp
NM_001305004.1:c.47T>A (PLP1)	NP_001291933.1:p.Val16Asp
NM_199478.2:c.212T>A (PLP1)	NP_955772.1:p.Val71Asp
XR_244483.3:n.862+6196A>T
NR_146558.1:n.457+6196A>T (RAB9B)
NR_146560.1:n.743+6196A>T (RAB9B)
NM_000533.5:c.212T>A (PLP1) MANE Select	NP_000524.3:p.Val71Asp
NM_199478.3:c.212T>A (PLP1)	NP_955772.1:p.Val71Asp
NM_001128834.3:c.212T>A (PLP1)	NP_001122306.1:p.Val71Asp
NR_146558.2:n.432+6196A>T (RAB9B)
NR_146560.2:n.718+6196A>T (RAB9B)