Canonical Allele Identifier: CA869471664

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs1338571561
• gnomAD v3: X-103786395-A-G
• gnomAD v4: X-103786395-A-G
• MyVariant Identifiers: chrX:g.103041324A>G (hg19) ; chrX:g.103786395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786395A>G , CM000685.2:g.103786395A>G	GRCh38
NC_000023.10:g.103041324A>G , CM000685.1:g.103041324A>G	GRCh37
NC_000023.9:g.102927980A>G	NCBI36
NG_008863.2:g.14885A>G
NG_016452.2:g.50888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.192-70A>G (PLP1) MANE Select	ENSP00000484450.1:n.192-70A>G
ENST00000422393.5:c.192-70A>G (PLP1)	ENSP00000413931.1:n.192-70A>G
ENST00000433491.5:c.192-70A>G (PLP1)	ENSP00000393391.1:n.192-70A>G
ENST00000434483.5:c.192-70A>G (PLP1)	ENSP00000403335.1:n.192-70A>G
ENST00000443502.5:c.192-70A>G (PLP1)	ENSP00000391853.1:n.192-70A>G
ENST00000455268.5:c.192-70A>G (PLP1)	ENSP00000409802.1:n.192-70A>G
ENST00000461231.5:n.108-70A>G (PLP1)
ENST00000464776.5:n.456-70A>G (PLP1)
ENST00000465975.1:n.312-332A>G (PLP1)
ENST00000476160.1:n.171-70A>G (PLP1)
ENST00000478642.5:n.173-70A>G (PLP1)
ENST00000479569.5:n.343-70A>G (PLP1)
ENST00000485688.5:n.34-70A>G (PLP1)
ENST00000485931.5:n.270-70A>G (PLP1)
ENST00000494475.5:c.192-70A>G (PLP1)	ENSP00000480409.1:n.192-70A>G
ENST00000495678.5:n.494-70A>G (PLP1)
ENST00000612423.4:c.192-70A>G (PLP1)	ENSP00000481006.1:n.192-70A>G
ENST00000619236.1:c.192-70A>G (PLP1)	ENSP00000477619.1:n.192-70A>G
ENST00000619257.4:n.422-70A>G (PLP1)
ENST00000621218.4:c.192-70A>G (PLP1)	ENSP00000484450.1:n.192-70A>G
NM_000533.4:c.192-70A>G (PLP1)	NP_000524.3:n.192-70A>G
NM_001128834.2:c.192-70A>G (PLP1)	NP_001122306.1:n.192-70A>G
NM_001305004.1:c.27-70A>G (PLP1)	NP_001291933.1:n.27-70A>G
NM_199478.2:c.192-70A>G (PLP1)	NP_955772.1:n.192-70A>G
XR_244483.3:n.862+6286T>C
NR_146558.1:n.457+6286T>C (RAB9B)
NR_146560.1:n.743+6286T>C (RAB9B)
NM_000533.5:c.192-70A>G (PLP1) MANE Select	NP_000524.3:n.192-70A>G
NM_199478.3:c.192-70A>G (PLP1)	NP_955772.1:n.192-70A>G
NM_001128834.3:c.192-70A>G (PLP1)	NP_001122306.1:n.192-70A>G
NR_146558.2:n.432+6286T>C (RAB9B)
NR_146560.2:n.718+6286T>C (RAB9B)