Canonical Allele Identifier: CA1135959894

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs2074414298
• gnomAD v3: X-103776817-G-T
• gnomAD v4: X-103776817-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776817G>T , CM000685.2:g.103776817G>T	GRCh38
NC_000023.10:g.103031745G>T , CM000685.1:g.103031745G>T	GRCh37
NC_000023.9:g.102918401G>T	NCBI36
NG_008863.2:g.5307G>T
NG_016452.2:g.60466C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422393.5:c.-143-36G>T (PLP1)	ENSP00000413931.1:n.-143-36G>T
ENST00000433491.5:c.-143-36G>T (PLP1)	ENSP00000393391.1:n.-143-36G>T
ENST00000434483.5:c.-143-36G>T (PLP1)	ENSP00000403335.1:n.-143-36G>T
ENST00000443502.5:c.-143-36G>T (PLP1)	ENSP00000391853.1:n.-143-36G>T
ENST00000455268.5:c.-143-36G>T (PLP1)	ENSP00000409802.1:n.-143-36G>T
ENST00000494475.5:c.-143-36G>T (PLP1)	ENSP00000480409.1:n.-143-36G>T
ENST00000612423.4:c.-143-36G>T (PLP1)	ENSP00000481006.1:n.-143-36G>T
NM_000533.4:c.-179G>T (PLP1)	NP_000524.3:n.-179G>T
NM_001128834.2:c.-143-36G>T (PLP1)	NP_001122306.1:n.-143-36G>T
NM_199478.2:c.-179G>T (PLP1)	NP_955772.1:n.-179G>T
XR_244483.3:n.863-164C>A
NR_146558.1:n.458-164C>A (RAB9B)
NR_146560.1:n.744-164C>A (RAB9B)
NM_001128834.3:c.-143-36G>T (PLP1)	NP_001122306.1:n.-143-36G>T
NR_146558.2:n.433-164C>A (RAB9B)
NR_146560.2:n.719-164C>A (RAB9B)