Canonical Allele Identifier: CA221114

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 93235
• ClinVar RCV Id: RCV000079102 ; RCV000794114
• dbSNP Id: rs398123467
• MyVariant Identifiers: chrX:g.103044302G>C (hg19) ; chrX:g.103789373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789373G>C , CM000685.2:g.103789373G>C	GRCh38
NC_000023.10:g.103044302G>C , CM000685.1:g.103044302G>C	GRCh37
NC_000023.9:g.102930958G>C	NCBI36
NG_008863.2:g.17863G>C
NG_016452.2:g.47910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.737G>C (PLP1) MANE Select	ENSP00000484450.1:p.Gly246Ala
ENST00000461231.5:n.548G>C (PLP1)
ENST00000466486.1:n.573G>C (PLP1)
ENST00000485688.5:n.474G>C (PLP1)
ENST00000496836.1:n.467G>C (PLP1)
ENST00000612423.4:c.737G>C (PLP1)	ENSP00000481006.1:p.Gly246Ala
ENST00000619236.1:c.632G>C (PLP1)	ENSP00000477619.1:p.Gly211Ala
ENST00000621218.4:c.737G>C (PLP1)	ENSP00000484450.1:p.Gly246Ala
NM_000533.4:c.737G>C (PLP1)	NP_000524.3:p.Gly246Ala
NM_001128834.2:c.737G>C (PLP1)	NP_001122306.1:p.Gly246Ala
NM_001305004.1:c.572G>C (PLP1)	NP_001291933.1:p.Gly191Ala
NM_199478.2:c.632G>C (PLP1)	NP_955772.1:p.Gly211Ala
XR_244483.3:n.862+3308C>G
NR_146558.1:n.457+3308C>G (RAB9B)
NR_146560.1:n.743+3308C>G (RAB9B)
NM_000533.5:c.737G>C (PLP1) MANE Select	NP_000524.3:p.Gly246Ala
NM_199478.3:c.632G>C (PLP1)	NP_955772.1:p.Gly211Ala
NM_001128834.3:c.737G>C (PLP1)	NP_001122306.1:p.Gly246Ala
NR_146558.2:n.432+3308C>G (RAB9B)
NR_146560.2:n.718+3308C>G (RAB9B)