Canonical Allele Identifier: CA255693

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11081
• ClinVar RCV Id: RCV000011830
• dbSNP Id: rs132630284
• MyVariant Identifiers: chrX:g.103042880G>C (hg19) ; chrX:g.103787951G>C (hg38)
• PubMed: PMID:1376966

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787951G>C , CM000685.2:g.103787951G>C	GRCh38
NC_000023.10:g.103042880G>C , CM000685.1:g.103042880G>C	GRCh37
NC_000023.9:g.102929536G>C	NCBI36
NG_008863.2:g.16441G>C
NG_016452.2:g.49332C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000621218.5:c.607G>C (PLP1) MANE Select	ENSP00000484450.1:p.Asp203His
ENST00000461231.5:n.418G>C (PLP1)
ENST00000466486.1:n.443G>C (PLP1)
ENST00000478642.5:n.588G>C (PLP1)
ENST00000479569.5:n.653G>C (PLP1)
ENST00000485688.5:n.344G>C (PLP1)
ENST00000494119.1:n.153G>C (PLP1)
ENST00000612423.4:c.607G>C (PLP1)	ENSP00000481006.1:p.Asp203His
ENST00000619236.1:c.502G>C (PLP1)	ENSP00000477619.1:p.Asp168His
ENST00000621218.4:c.607G>C (PLP1)	ENSP00000484450.1:p.Asp203His
NM_000533.4:c.607G>C (PLP1)	NP_000524.3:p.Asp203His
NM_001128834.2:c.607G>C (PLP1)	NP_001122306.1:p.Asp203His
NM_001305004.1:c.442G>C (PLP1)	NP_001291933.1:p.Asp148His
NM_199478.2:c.502G>C (PLP1)	NP_955772.1:p.Asp168His
XR_244483.3:n.862+4730C>G
NR_146558.1:n.457+4730C>G (RAB9B)
NR_146560.1:n.743+4730C>G (RAB9B)
NM_000533.5:c.607G>C (PLP1) MANE Select	NP_000524.3:p.Asp203His
NM_199478.3:c.502G>C (PLP1)	NP_955772.1:p.Asp168His
NM_001128834.3:c.607G>C (PLP1)	NP_001122306.1:p.Asp203His
NR_146558.2:n.432+4730C>G (RAB9B)
NR_146560.2:n.718+4730C>G (RAB9B)