Canonical Allele Identifier: CA2449049824

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs933887659
• gnomAD v4: X-103776819-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776819T>G , CM000685.2:g.103776819T>G	GRCh38
NC_000023.10:g.103031747T>G , CM000685.1:g.103031747T>G	GRCh37
NC_000023.9:g.102918403T>G	NCBI36
NG_008863.2:g.5309T>G
NG_016452.2:g.60464A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422393.5:c.-143-34T>G (PLP1)	ENSP00000413931.1:n.-143-34T>G
ENST00000433491.5:c.-143-34T>G (PLP1)	ENSP00000393391.1:n.-143-34T>G
ENST00000434483.5:c.-143-34T>G (PLP1)	ENSP00000403335.1:n.-143-34T>G
ENST00000443502.5:c.-143-34T>G (PLP1)	ENSP00000391853.1:n.-143-34T>G
ENST00000455268.5:c.-143-34T>G (PLP1)	ENSP00000409802.1:n.-143-34T>G
ENST00000494475.5:c.-143-34T>G (PLP1)	ENSP00000480409.1:n.-143-34T>G
ENST00000612423.4:c.-143-34T>G (PLP1)	ENSP00000481006.1:n.-143-34T>G
NM_000533.4:c.-177T>G (PLP1)	NP_000524.3:n.-177T>G
NM_001128834.2:c.-143-34T>G (PLP1)	NP_001122306.1:n.-143-34T>G
NM_199478.2:c.-177T>G (PLP1)	NP_955772.1:n.-177T>G
XR_244483.3:n.863-166A>C
NR_146558.1:n.458-166A>C (RAB9B)
NR_146560.1:n.744-166A>C (RAB9B)
NM_001128834.3:c.-143-34T>G (PLP1)	NP_001122306.1:n.-143-34T>G
NR_146558.2:n.433-166A>C (RAB9B)
NR_146560.2:n.719-166A>C (RAB9B)