Canonical Allele Identifier: CA10478904

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs750073011
• ExAC: X:103040540 G / C
• gnomAD v2: X-103040540-G-C
• gnomAD v4: X-103785611-G-C
• MyVariant Identifiers: chrX:g.103040540G>C (hg19) ; chrX:g.103785611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785611G>C , CM000685.2:g.103785611G>C	GRCh38
NC_000023.10:g.103040540G>C , CM000685.1:g.103040540G>C	GRCh37
NC_000023.9:g.102927196G>C	NCBI36
NG_008863.2:g.14101G>C
NG_016452.2:g.51672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.34G>C (PLP1) MANE Select	ENSP00000484450.1:p.Val12Leu
ENST00000422393.5:c.34G>C (PLP1)	ENSP00000413931.1:p.Val12Leu
ENST00000433491.5:c.34G>C (PLP1)	ENSP00000393391.1:p.Val12Leu
ENST00000434483.5:c.34G>C (PLP1)	ENSP00000403335.1:p.Val12Leu
ENST00000443502.5:c.34G>C (PLP1)	ENSP00000391853.1:p.Val12Leu
ENST00000455268.5:c.34G>C (PLP1)	ENSP00000409802.1:p.Val12Leu
ENST00000464776.5:n.298G>C (PLP1)
ENST00000465975.1:n.156G>C (PLP1)
ENST00000479569.5:n.185G>C (PLP1)
ENST00000480325.1:n.113G>C (PLP1)
ENST00000485931.5:n.112G>C (PLP1)
ENST00000494475.5:c.34G>C (PLP1)	ENSP00000480409.1:p.Val12Leu
ENST00000495678.5:n.336G>C (PLP1)
ENST00000612423.4:c.34G>C (PLP1)	ENSP00000481006.1:p.Val12Leu
ENST00000619236.1:c.34G>C (PLP1)	ENSP00000477619.1:p.Val12Leu
ENST00000619257.4:n.264G>C (PLP1)
ENST00000621218.4:c.34G>C (PLP1)	ENSP00000484450.1:p.Val12Leu
NM_000533.4:c.34G>C (PLP1)	NP_000524.3:p.Val12Leu
NM_001128834.2:c.34G>C (PLP1)	NP_001122306.1:p.Val12Leu
NM_001305004.1:c.5-136G>C (PLP1)	NP_001291933.1:n.5-136G>C
NM_199478.2:c.34G>C (PLP1)	NP_955772.1:p.Val12Leu
XR_244483.3:n.862+7070C>G
NR_146558.1:n.457+7070C>G (RAB9B)
NR_146560.1:n.743+7070C>G (RAB9B)
NM_000533.5:c.34G>C (PLP1) MANE Select	NP_000524.3:p.Val12Leu
NM_199478.3:c.34G>C (PLP1)	NP_955772.1:p.Val12Leu
NM_001128834.3:c.34G>C (PLP1)	NP_001122306.1:p.Val12Leu
NR_146558.2:n.432+7070C>G (RAB9B)
NR_146560.2:n.718+7070C>G (RAB9B)