Canonical Allele Identifier: CA2449052792

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103785771A= , CM000685.2:g.103785771A= GRCh38
NC_000023.10:g.103040700A= , CM000685.1:g.103040700A= GRCh37
NC_000023.9:g.102927356A= NCBI36
NG_008863.2:g.14261A=
NG_016452.2:g.51512T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000621218.5:c.191+3A= (PLP1) MANE Select ENSP00000484450.1:n.191+3A=
ENST00000422393.5:c.191+3A= (PLP1) ENSP00000413931.1:n.191+3A=
ENST00000433491.5:c.191+3A= (PLP1) ENSP00000393391.1:n.191+3A=
ENST00000434483.5:c.191+3A= (PLP1) ENSP00000403335.1:n.191+3A=
ENST00000443502.5:c.191+3A= (PLP1) ENSP00000391853.1:n.191+3A=
ENST00000455268.5:c.191+3A= (PLP1) ENSP00000409802.1:n.191+3A=
ENST00000464776.5:n.455+3A= (PLP1)
ENST00000465975.1:n.311+5A= (PLP1)
ENST00000479569.5:n.342+3A= (PLP1)
ENST00000480325.1:n.273A= (PLP1)
ENST00000485931.5:n.269+3A= (PLP1)
ENST00000494475.5:c.191+3A= (PLP1) ENSP00000480409.1:n.191+3A=
ENST00000495678.5:n.493+3A= (PLP1)
ENST00000612423.4:c.191+3A= (PLP1) ENSP00000481006.1:n.191+3A=
ENST00000619236.1:c.191+3A= (PLP1) ENSP00000477619.1:n.191+3A=
ENST00000619257.4:n.421+3A= (PLP1)
ENST00000621218.4:c.191+3A= (PLP1) ENSP00000484450.1:n.191+3A=
NM_000533.4:c.191+3A= (PLP1) NP_000524.3:n.191+3A=
NM_001128834.2:c.191+3A= (PLP1) NP_001122306.1:n.191+3A=
NM_001305004.1:c.26+3A= (PLP1) NP_001291933.1:n.26+3A=
NM_199478.2:c.191+3A= (PLP1) NP_955772.1:n.191+3A=
XR_244483.3:n.862+6910T=
NR_146558.1:n.457+6910T= (RAB9B)
NR_146560.1:n.743+6910T= (RAB9B)
NM_000533.5:c.191+3A= (PLP1) MANE Select NP_000524.3:n.191+3A=
NM_199478.3:c.191+3A= (PLP1) NP_955772.1:n.191+3A=
NM_001128834.3:c.191+3A= (PLP1) NP_001122306.1:n.191+3A=
NR_146558.2:n.432+6910T= (RAB9B)
NR_146560.2:n.718+6910T= (RAB9B)