Canonical Allele Identifier: CA414102190

Gene: PLP1 RAB9B

Linked Data

• MyVariant Identifiers: chrX:g.103040643T>G (hg19) ; chrX:g.103785714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785714T>G , CM000685.2:g.103785714T>G	GRCh38
NC_000023.10:g.103040643T>G , CM000685.1:g.103040643T>G	GRCh37
NC_000023.9:g.102927299T>G	NCBI36
NG_008863.2:g.14204T>G
NG_016452.2:g.51569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.137T>G (PLP1) MANE Select	ENSP00000484450.1:p.Leu46Arg
ENST00000422393.5:c.137T>G (PLP1)	ENSP00000413931.1:p.Leu46Arg
ENST00000433491.5:c.137T>G (PLP1)	ENSP00000393391.1:p.Leu46Arg
ENST00000434483.5:c.137T>G (PLP1)	ENSP00000403335.1:p.Leu46Arg
ENST00000443502.5:c.137T>G (PLP1)	ENSP00000391853.1:p.Leu46Arg
ENST00000455268.5:c.137T>G (PLP1)	ENSP00000409802.1:p.Leu46Arg
ENST00000464776.5:n.401T>G (PLP1)
ENST00000465975.1:n.259T>G (PLP1)
ENST00000479569.5:n.288T>G (PLP1)
ENST00000480325.1:n.216T>G (PLP1)
ENST00000485931.5:n.215T>G (PLP1)
ENST00000494475.5:c.137T>G (PLP1)	ENSP00000480409.1:p.Leu46Arg
ENST00000495678.5:n.439T>G (PLP1)
ENST00000612423.4:c.137T>G (PLP1)	ENSP00000481006.1:p.Leu46Arg
ENST00000619236.1:c.137T>G (PLP1)	ENSP00000477619.1:p.Leu46Arg
ENST00000619257.4:n.367T>G (PLP1)
ENST00000621218.4:c.137T>G (PLP1)	ENSP00000484450.1:p.Leu46Arg
NM_000533.4:c.137T>G (PLP1)	NP_000524.3:p.Leu46Arg
NM_001128834.2:c.137T>G (PLP1)	NP_001122306.1:p.Leu46Arg
NM_001305004.1:c.5-33T>G (PLP1)	NP_001291933.1:n.5-33T>G
NM_199478.2:c.137T>G (PLP1)	NP_955772.1:p.Leu46Arg
XR_244483.3:n.862+6967A>C
NR_146558.1:n.457+6967A>C (RAB9B)
NR_146560.1:n.743+6967A>C (RAB9B)
NM_000533.5:c.137T>G (PLP1) MANE Select	NP_000524.3:p.Leu46Arg
NM_199478.3:c.137T>G (PLP1)	NP_955772.1:p.Leu46Arg
NM_001128834.3:c.137T>G (PLP1)	NP_001122306.1:p.Leu46Arg
NR_146558.2:n.432+6967A>C (RAB9B)
NR_146560.2:n.718+6967A>C (RAB9B)