Canonical Allele Identifier: CA414102472

Gene: PLP1 RAB9B

Linked Data

• MyVariant Identifiers: chrX:g.103041428G>T (hg19) ; chrX:g.103786499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786499G>T , CM000685.2:g.103786499G>T	GRCh38
NC_000023.10:g.103041428G>T , CM000685.1:g.103041428G>T	GRCh37
NC_000023.9:g.102928084G>T	NCBI36
NG_008863.2:g.14989G>T
NG_016452.2:g.50784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.226G>T (PLP1) MANE Select	ENSP00000484450.1:p.Ala76Ser
ENST00000422393.5:c.226G>T (PLP1)	ENSP00000413931.1:p.Ala76Ser
ENST00000433491.5:c.226G>T (PLP1)	ENSP00000393391.1:p.Ala76Ser
ENST00000434483.5:c.226G>T (PLP1)	ENSP00000403335.1:p.Ala76Ser
ENST00000443502.5:c.226G>T (PLP1)	ENSP00000391853.1:p.Ala76Ser
ENST00000455268.5:c.226G>T (PLP1)	ENSP00000409802.1:p.Ala76Ser
ENST00000461231.5:n.142G>T (PLP1)
ENST00000464776.5:n.490G>T (PLP1)
ENST00000465975.1:n.312-228G>T (PLP1)
ENST00000476160.1:n.205G>T (PLP1)
ENST00000478642.5:n.207G>T (PLP1)
ENST00000479569.5:n.377G>T (PLP1)
ENST00000485688.5:n.68G>T (PLP1)
ENST00000485931.5:n.304G>T (PLP1)
ENST00000494475.5:c.226G>T (PLP1)	ENSP00000480409.1:p.Ala76Ser
ENST00000495678.5:n.528G>T (PLP1)
ENST00000612423.4:c.226G>T (PLP1)	ENSP00000481006.1:p.Ala76Ser
ENST00000619236.1:c.226G>T (PLP1)	ENSP00000477619.1:p.Ala76Ser
ENST00000619257.4:n.456G>T (PLP1)
ENST00000621218.4:c.226G>T (PLP1)	ENSP00000484450.1:p.Ala76Ser
NM_000533.4:c.226G>T (PLP1)	NP_000524.3:p.Ala76Ser
NM_001128834.2:c.226G>T (PLP1)	NP_001122306.1:p.Ala76Ser
NM_001305004.1:c.61G>T (PLP1)	NP_001291933.1:p.Ala21Ser
NM_199478.2:c.226G>T (PLP1)	NP_955772.1:p.Ala76Ser
XR_244483.3:n.862+6182C>A
NR_146558.1:n.457+6182C>A (RAB9B)
NR_146560.1:n.743+6182C>A (RAB9B)
NM_000533.5:c.226G>T (PLP1) MANE Select	NP_000524.3:p.Ala76Ser
NM_199478.3:c.226G>T (PLP1)	NP_955772.1:p.Ala76Ser
NM_001128834.3:c.226G>T (PLP1)	NP_001122306.1:p.Ala76Ser
NR_146558.2:n.432+6182C>A (RAB9B)
NR_146560.2:n.718+6182C>A (RAB9B)