Canonical Allele Identifier: CA121352

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 11087
• ClinVar RCV Id: RCV000011836 ; RCV001851799
• dbSNP Id: rs132630290
• MyVariant Identifiers: chrX:g.103031926G>A (hg19) ; chrX:g.103776998G>A (hg38)
• PubMed: PMID:8786077

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776998G>A , CM000685.2:g.103776998G>A	GRCh38
NC_000023.10:g.103031926G>A , CM000685.1:g.103031926G>A	GRCh37
NC_000023.9:g.102918582G>A	NCBI36
NG_008863.2:g.5488G>A
NG_016452.2:g.60285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.3G>A (PLP1) MANE Select	ENSP00000484450.1:p.Met1Ile
ENST00000422393.5:c.3G>A (PLP1)	ENSP00000413931.1:p.Met1Ile
ENST00000433491.5:c.3G>A (PLP1)	ENSP00000393391.1:p.Met1Ile
ENST00000434483.5:c.3G>A (PLP1)	ENSP00000403335.1:p.Met1Ile
ENST00000443502.5:c.3G>A (PLP1)	ENSP00000391853.1:p.Met1Ile
ENST00000455268.5:c.3G>A (PLP1)	ENSP00000409802.1:p.Met1Ile
ENST00000464776.5:n.125G>A (PLP1)
ENST00000465975.1:n.125G>A (PLP1)
ENST00000480325.1:n.82G>A (PLP1)
ENST00000485931.5:n.81G>A (PLP1)
ENST00000494475.5:c.3G>A (PLP1)	ENSP00000480409.1:p.Met1Ile
ENST00000612423.4:c.3G>A (PLP1)	ENSP00000481006.1:p.Met1Ile
ENST00000619236.1:c.3G>A (PLP1)	ENSP00000477619.1:p.Met1Ile
ENST00000619257.4:n.125G>A (PLP1)
ENST00000621218.4:c.3G>A (PLP1)	ENSP00000484450.1:p.Met1Ile
NM_000533.4:c.3G>A (PLP1)	NP_000524.3:p.Met1Ile
NM_001128834.2:c.3G>A (PLP1)	NP_001122306.1:p.Met1Ile
NM_001305004.1:c.3G>A (PLP1)	NP_001291933.1:p.Met1Ile
NM_199478.2:c.3G>A (PLP1)	NP_955772.1:p.Met1Ile
XR_244483.3:n.863-345C>T
NR_146558.1:n.458-345C>T (RAB9B)
NR_146560.1:n.744-345C>T (RAB9B)
NM_000533.5:c.3G>A (PLP1) MANE Select	NP_000524.3:p.Met1Ile
NM_199478.3:c.3G>A (PLP1)	NP_955772.1:p.Met1Ile
NM_001128834.3:c.3G>A (PLP1)	NP_001122306.1:p.Met1Ile
NR_146558.2:n.433-345C>T (RAB9B)
NR_146560.2:n.719-345C>T (RAB9B)