Canonical Allele Identifier: CA2694356226

Gene: PLP1 RAB9B

Linked Data

• gnomAD v4: X-103776828-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776828A>G , CM000685.2:g.103776828A>G	GRCh38
NC_000023.10:g.103031756A>G , CM000685.1:g.103031756A>G	GRCh37
NC_000023.9:g.102918412A>G	NCBI36
NG_008863.2:g.5318A>G
NG_016452.2:g.60455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422393.5:c.-143-25A>G (PLP1)	ENSP00000413931.1:n.-143-25A>G
ENST00000433491.5:c.-143-25A>G (PLP1)	ENSP00000393391.1:n.-143-25A>G
ENST00000434483.5:c.-143-25A>G (PLP1)	ENSP00000403335.1:n.-143-25A>G
ENST00000443502.5:c.-143-25A>G (PLP1)	ENSP00000391853.1:n.-143-25A>G
ENST00000455268.5:c.-143-25A>G (PLP1)	ENSP00000409802.1:n.-143-25A>G
ENST00000494475.5:c.-143-25A>G (PLP1)	ENSP00000480409.1:n.-143-25A>G
ENST00000612423.4:c.-143-25A>G (PLP1)	ENSP00000481006.1:n.-143-25A>G
NM_000533.4:c.-168A>G (PLP1)	NP_000524.3:n.-168A>G
NM_001128834.2:c.-143-25A>G (PLP1)	NP_001122306.1:n.-143-25A>G
NM_199478.2:c.-168A>G (PLP1)	NP_955772.1:n.-168A>G
XR_244483.3:n.863-175T>C
NR_146558.1:n.458-175T>C (RAB9B)
NR_146560.1:n.744-175T>C (RAB9B)
NM_001128834.3:c.-143-25A>G (PLP1)	NP_001122306.1:n.-143-25A>G
NR_146558.2:n.433-175T>C (RAB9B)
NR_146560.2:n.719-175T>C (RAB9B)