Canonical Allele Identifier: CA518092067

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 1566555
• ClinVar RCV Id: RCV002207471
• dbSNP Id: rs2147764368
• MyVariant Identifiers: chrX:g.103041493C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786564C>G , CM000685.2:g.103786564C>G	GRCh38
NC_000023.10:g.103041493C>G , CM000685.1:g.103041493C>G	GRCh37
NC_000023.9:g.102928149C>G	NCBI36
NG_008863.2:g.15054C>G
NG_016452.2:g.50719G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.291C>G (PLP1) MANE Select	ENSP00000484450.1:p.Val97=
ENST00000422393.5:c.291C>G (PLP1)	ENSP00000413931.1:p.Val97=
ENST00000433491.5:c.291C>G (PLP1)	ENSP00000393391.1:p.Val97=
ENST00000434483.5:c.291C>G (PLP1)	ENSP00000403335.1:p.Val97=
ENST00000443502.5:c.291C>G (PLP1)	ENSP00000391853.1:p.Val97=
ENST00000455268.5:c.291C>G (PLP1)	ENSP00000409802.1:p.Val97=
ENST00000461231.5:n.207C>G (PLP1)
ENST00000464776.5:n.555C>G (PLP1)
ENST00000465975.1:n.312-163C>G (PLP1)
ENST00000476160.1:n.270C>G (PLP1)
ENST00000478642.5:n.272C>G (PLP1)
ENST00000479569.5:n.442C>G (PLP1)
ENST00000485688.5:n.133C>G (PLP1)
ENST00000485931.5:n.369C>G (PLP1)
ENST00000494475.5:c.291C>G (PLP1)	ENSP00000480409.1:p.Val97=
ENST00000612423.4:c.291C>G (PLP1)	ENSP00000481006.1:p.Val97=
ENST00000619236.1:c.291C>G (PLP1)	ENSP00000477619.1:p.Val97=
ENST00000619257.4:n.521C>G (PLP1)
ENST00000621218.4:c.291C>G (PLP1)	ENSP00000484450.1:p.Val97=
NM_000533.4:c.291C>G (PLP1)	NP_000524.3:p.Val97=
NM_001128834.2:c.291C>G (PLP1)	NP_001122306.1:p.Val97=
NM_001305004.1:c.126C>G (PLP1)	NP_001291933.1:p.Val42=
NM_199478.2:c.291C>G (PLP1)	NP_955772.1:p.Val97=
XR_244483.3:n.862+6117G>C
NR_146558.1:n.457+6117G>C (RAB9B)
NR_146560.1:n.743+6117G>C (RAB9B)
NM_000533.5:c.291C>G (PLP1) MANE Select	NP_000524.3:p.Val97=
NM_199478.3:c.291C>G (PLP1)	NP_955772.1:p.Val97=
NM_001128834.3:c.291C>G (PLP1)	NP_001122306.1:p.Val97=
NR_146558.2:n.432+6117G>C (RAB9B)
NR_146560.2:n.718+6117G>C (RAB9B)