Canonical Allele Identifier: CA414102447

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs1237329577
• MyVariant Identifiers: chrX:g.103041416A>T (hg19) ; chrX:g.103786487A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786487A>T , CM000685.2:g.103786487A>T	GRCh38
NC_000023.10:g.103041416A>T , CM000685.1:g.103041416A>T	GRCh37
NC_000023.9:g.102928072A>T	NCBI36
NG_008863.2:g.14977A>T
NG_016452.2:g.50796T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.214A>T (PLP1) MANE Select	ENSP00000484450.1:p.Ile72Phe
ENST00000422393.5:c.214A>T (PLP1)	ENSP00000413931.1:p.Ile72Phe
ENST00000433491.5:c.214A>T (PLP1)	ENSP00000393391.1:p.Ile72Phe
ENST00000434483.5:c.214A>T (PLP1)	ENSP00000403335.1:p.Ile72Phe
ENST00000443502.5:c.214A>T (PLP1)	ENSP00000391853.1:p.Ile72Phe
ENST00000455268.5:c.214A>T (PLP1)	ENSP00000409802.1:p.Ile72Phe
ENST00000461231.5:n.130A>T (PLP1)
ENST00000464776.5:n.478A>T (PLP1)
ENST00000465975.1:n.312-240A>T (PLP1)
ENST00000476160.1:n.193A>T (PLP1)
ENST00000478642.5:n.195A>T (PLP1)
ENST00000479569.5:n.365A>T (PLP1)
ENST00000485688.5:n.56A>T (PLP1)
ENST00000485931.5:n.292A>T (PLP1)
ENST00000494475.5:c.214A>T (PLP1)	ENSP00000480409.1:p.Ile72Phe
ENST00000495678.5:n.516A>T (PLP1)
ENST00000612423.4:c.214A>T (PLP1)	ENSP00000481006.1:p.Ile72Phe
ENST00000619236.1:c.214A>T (PLP1)	ENSP00000477619.1:p.Ile72Phe
ENST00000619257.4:n.444A>T (PLP1)
ENST00000621218.4:c.214A>T (PLP1)	ENSP00000484450.1:p.Ile72Phe
NM_000533.4:c.214A>T (PLP1)	NP_000524.3:p.Ile72Phe
NM_001128834.2:c.214A>T (PLP1)	NP_001122306.1:p.Ile72Phe
NM_001305004.1:c.49A>T (PLP1)	NP_001291933.1:p.Ile17Phe
NM_199478.2:c.214A>T (PLP1)	NP_955772.1:p.Ile72Phe
XR_244483.3:n.862+6194T>A
NR_146558.1:n.457+6194T>A (RAB9B)
NR_146560.1:n.743+6194T>A (RAB9B)
NM_000533.5:c.214A>T (PLP1) MANE Select	NP_000524.3:p.Ile72Phe
NM_199478.3:c.214A>T (PLP1)	NP_955772.1:p.Ile72Phe
NM_001128834.3:c.214A>T (PLP1)	NP_001122306.1:p.Ile72Phe
NR_146558.2:n.432+6194T>A (RAB9B)
NR_146560.2:n.718+6194T>A (RAB9B)