Canonical Allele Identifier: CA16609398

Linked Data

ClinVar Variation Id: 397513
ClinVar RCV Id: RCV000449517
dbSNP Id: rs1060499653

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103785752G>T , CM000685.2:g.103785752G>T GRCh38
NC_000023.10:g.103040681G>T , CM000685.1:g.103040681G>T GRCh37
NC_000023.9:g.102927337G>T NCBI36
NG_008863.2:g.14242G>T
NG_016452.2:g.51531C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000621218.5:c.175G>T (PLP1) MANE Select ENSP00000484450.1:p.Glu59Ter
ENST00000422393.5:c.175G>T (PLP1) ENSP00000413931.1:p.Glu59Ter
ENST00000433491.5:c.175G>T (PLP1) ENSP00000393391.1:p.Glu59Ter
ENST00000434483.5:c.175G>T (PLP1) ENSP00000403335.1:p.Glu59Ter
ENST00000443502.5:c.175G>T (PLP1) ENSP00000391853.1:p.Glu59Ter
ENST00000455268.5:c.175G>T (PLP1) ENSP00000409802.1:p.Glu59Ter
ENST00000464776.5:n.439G>T (PLP1)
ENST00000465975.1:n.297G>T (PLP1)
ENST00000479569.5:n.326G>T (PLP1)
ENST00000480325.1:n.254G>T (PLP1)
ENST00000485931.5:n.253G>T (PLP1)
ENST00000494475.5:c.175G>T (PLP1) ENSP00000480409.1:p.Glu59Ter
ENST00000495678.5:n.477G>T (PLP1)
ENST00000612423.4:c.175G>T (PLP1) ENSP00000481006.1:p.Glu59Ter
ENST00000619236.1:c.175G>T (PLP1) ENSP00000477619.1:p.Glu59Ter
ENST00000619257.4:n.405G>T (PLP1)
ENST00000621218.4:c.175G>T (PLP1) ENSP00000484450.1:p.Glu59Ter
NM_000533.4:c.175G>T (PLP1) NP_000524.3:p.Glu59Ter
NM_001128834.2:c.175G>T (PLP1) NP_001122306.1:p.Glu59Ter
NM_001305004.1:c.10G>T (PLP1) NP_001291933.1:p.Glu4Ter
NM_199478.2:c.175G>T (PLP1) NP_955772.1:p.Glu59Ter
XR_244483.3:n.862+6929C>A
NR_146558.1:n.457+6929C>A (RAB9B)
NR_146560.1:n.743+6929C>A (RAB9B)
NM_000533.5:c.175G>T (PLP1) MANE Select NP_000524.3:p.Glu59Ter
NM_199478.3:c.175G>T (PLP1) NP_955772.1:p.Glu59Ter
NM_001128834.3:c.175G>T (PLP1) NP_001122306.1:p.Glu59Ter
NR_146558.2:n.432+6929C>A (RAB9B)
NR_146560.2:n.718+6929C>A (RAB9B)