Canonical Allele Identifier: CA348083

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 219649
• ClinVar RCV Id: RCV000203805 ; RCV002517370
• dbSNP Id: rs864622194
• MyVariant Identifiers: chrX:g.103031925T>C (hg19) ; chrX:g.103776997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776997T>C , CM000685.2:g.103776997T>C	GRCh38
NC_000023.10:g.103031925T>C , CM000685.1:g.103031925T>C	GRCh37
NC_000023.9:g.102918581T>C	NCBI36
NG_008863.2:g.5487T>C
NG_016452.2:g.60286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.2T>C (PLP1) MANE Select	ENSP00000484450.1:p.Met1Thr
ENST00000422393.5:c.2T>C (PLP1)	ENSP00000413931.1:p.Met1Thr
ENST00000433491.5:c.2T>C (PLP1)	ENSP00000393391.1:p.Met1Thr
ENST00000434483.5:c.2T>C (PLP1)	ENSP00000403335.1:p.Met1Thr
ENST00000443502.5:c.2T>C (PLP1)	ENSP00000391853.1:p.Met1Thr
ENST00000455268.5:c.2T>C (PLP1)	ENSP00000409802.1:p.Met1Thr
ENST00000464776.5:n.124T>C (PLP1)
ENST00000465975.1:n.124T>C (PLP1)
ENST00000480325.1:n.81T>C (PLP1)
ENST00000485931.5:n.80T>C (PLP1)
ENST00000494475.5:c.2T>C (PLP1)	ENSP00000480409.1:p.Met1Thr
ENST00000612423.4:c.2T>C (PLP1)	ENSP00000481006.1:p.Met1Thr
ENST00000619236.1:c.2T>C (PLP1)	ENSP00000477619.1:p.Met1Thr
ENST00000619257.4:n.124T>C (PLP1)
ENST00000621218.4:c.2T>C (PLP1)	ENSP00000484450.1:p.Met1Thr
NM_000533.4:c.2T>C (PLP1)	NP_000524.3:p.Met1Thr
NM_001128834.2:c.2T>C (PLP1)	NP_001122306.1:p.Met1Thr
NM_001305004.1:c.2T>C (PLP1)	NP_001291933.1:p.Met1Thr
NM_199478.2:c.2T>C (PLP1)	NP_955772.1:p.Met1Thr
XR_244483.3:n.863-344A>G
NR_146558.1:n.458-344A>G (RAB9B)
NR_146560.1:n.744-344A>G (RAB9B)
NM_000533.5:c.2T>C (PLP1) MANE Select	NP_000524.3:p.Met1Thr
NM_199478.3:c.2T>C (PLP1)	NP_955772.1:p.Met1Thr
NM_001128834.3:c.2T>C (PLP1)	NP_001122306.1:p.Met1Thr
NR_146558.2:n.433-344A>G (RAB9B)
NR_146560.2:n.719-344A>G (RAB9B)