Canonical Allele Identifier: CA869471670

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs1388892523
• gnomAD v3: X-103786443-G-A
• gnomAD v4: X-103786443-G-A
• MyVariant Identifiers: chrX:g.103041372G>A (hg19) ; chrX:g.103786443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786443G>A , CM000685.2:g.103786443G>A	GRCh38
NC_000023.10:g.103041372G>A , CM000685.1:g.103041372G>A	GRCh37
NC_000023.9:g.102928028G>A	NCBI36
NG_008863.2:g.14933G>A
NG_016452.2:g.50840C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.192-22G>A (PLP1) MANE Select	ENSP00000484450.1:n.192-22G>A
ENST00000422393.5:c.192-22G>A (PLP1)	ENSP00000413931.1:n.192-22G>A
ENST00000433491.5:c.192-22G>A (PLP1)	ENSP00000393391.1:n.192-22G>A
ENST00000434483.5:c.192-22G>A (PLP1)	ENSP00000403335.1:n.192-22G>A
ENST00000443502.5:c.192-22G>A (PLP1)	ENSP00000391853.1:n.192-22G>A
ENST00000455268.5:c.192-22G>A (PLP1)	ENSP00000409802.1:n.192-22G>A
ENST00000461231.5:n.108-22G>A (PLP1)
ENST00000464776.5:n.456-22G>A (PLP1)
ENST00000465975.1:n.312-284G>A (PLP1)
ENST00000476160.1:n.171-22G>A (PLP1)
ENST00000478642.5:n.173-22G>A (PLP1)
ENST00000479569.5:n.343-22G>A (PLP1)
ENST00000485688.5:n.34-22G>A (PLP1)
ENST00000485931.5:n.270-22G>A (PLP1)
ENST00000494475.5:c.192-22G>A (PLP1)	ENSP00000480409.1:n.192-22G>A
ENST00000495678.5:n.494-22G>A (PLP1)
ENST00000612423.4:c.192-22G>A (PLP1)	ENSP00000481006.1:n.192-22G>A
ENST00000619236.1:c.192-22G>A (PLP1)	ENSP00000477619.1:n.192-22G>A
ENST00000619257.4:n.422-22G>A (PLP1)
ENST00000621218.4:c.192-22G>A (PLP1)	ENSP00000484450.1:n.192-22G>A
NM_000533.4:c.192-22G>A (PLP1)	NP_000524.3:n.192-22G>A
NM_001128834.2:c.192-22G>A (PLP1)	NP_001122306.1:n.192-22G>A
NM_001305004.1:c.27-22G>A (PLP1)	NP_001291933.1:n.27-22G>A
NM_199478.2:c.192-22G>A (PLP1)	NP_955772.1:n.192-22G>A
XR_244483.3:n.862+6238C>T
NR_146558.1:n.457+6238C>T (RAB9B)
NR_146560.1:n.743+6238C>T (RAB9B)
NM_000533.5:c.192-22G>A (PLP1) MANE Select	NP_000524.3:n.192-22G>A
NM_199478.3:c.192-22G>A (PLP1)	NP_955772.1:n.192-22G>A
NM_001128834.3:c.192-22G>A (PLP1)	NP_001122306.1:n.192-22G>A
NR_146558.2:n.432+6238C>T (RAB9B)
NR_146560.2:n.718+6238C>T (RAB9B)