Canonical Allele Identifier: CA658404436

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103776820T>C , CM000685.2:g.103776820T>C GRCh38
NC_000023.10:g.103031748T>C , CM000685.1:g.103031748T>C GRCh37
NC_000023.9:g.102918404T>C NCBI36
NG_008863.2:g.5310T>C
NG_016452.2:g.60463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000422393.5:c.-143-33T>C (PLP1) ENSP00000413931.1:n.-143-33T>C
ENST00000433491.5:c.-143-33T>C (PLP1) ENSP00000393391.1:n.-143-33T>C
ENST00000434483.5:c.-143-33T>C (PLP1) ENSP00000403335.1:n.-143-33T>C
ENST00000443502.5:c.-143-33T>C (PLP1) ENSP00000391853.1:n.-143-33T>C
ENST00000455268.5:c.-143-33T>C (PLP1) ENSP00000409802.1:n.-143-33T>C
ENST00000494475.5:c.-143-33T>C (PLP1) ENSP00000480409.1:n.-143-33T>C
ENST00000612423.4:c.-143-33T>C (PLP1) ENSP00000481006.1:n.-143-33T>C
NM_000533.4:c.-176T>C (PLP1) NP_000524.3:n.-176T>C
NM_001128834.2:c.-143-33T>C (PLP1) NP_001122306.1:n.-143-33T>C
NM_199478.2:c.-176T>C (PLP1) NP_955772.1:n.-176T>C
XR_244483.3:n.863-167A>G
NR_146558.1:n.458-167A>G (RAB9B)
NR_146560.1:n.744-167A>G (RAB9B)
NM_001128834.3:c.-143-33T>C (PLP1) NP_001122306.1:n.-143-33T>C
NR_146558.2:n.433-167A>G (RAB9B)
NR_146560.2:n.719-167A>G (RAB9B)