Canonical Allele Identifier: CA2694356278

Gene: PLP1 RAB9B

Linked Data

• gnomAD v4: X-103776925-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103776925T>C , CM000685.2:g.103776925T>C	GRCh38
NC_000023.10:g.103031853T>C , CM000685.1:g.103031853T>C	GRCh37
NC_000023.9:g.102918509T>C	NCBI36
NG_008863.2:g.5415T>C
NG_016452.2:g.60358A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000621218.5:c.-71T>C (PLP1) MANE Select	ENSP00000484450.1:n.-71T>C
ENST00000422393.5:c.-71T>C (PLP1)	ENSP00000413931.1:n.-71T>C
ENST00000433491.5:c.-71T>C (PLP1)	ENSP00000393391.1:n.-71T>C
ENST00000434483.5:c.-71T>C (PLP1)	ENSP00000403335.1:n.-71T>C
ENST00000443502.5:c.-71T>C (PLP1)	ENSP00000391853.1:n.-71T>C
ENST00000455268.5:c.-71T>C (PLP1)	ENSP00000409802.1:n.-71T>C
ENST00000464776.5:n.52T>C (PLP1)
ENST00000465975.1:n.52T>C (PLP1)
ENST00000480325.1:n.9T>C (PLP1)
ENST00000485931.5:n.8T>C (PLP1)
ENST00000494475.5:c.-71T>C (PLP1)	ENSP00000480409.1:n.-71T>C
ENST00000612423.4:c.-71T>C (PLP1)	ENSP00000481006.1:n.-71T>C
ENST00000619236.1:c.-71T>C (PLP1)	ENSP00000477619.1:n.-71T>C
ENST00000619257.4:n.52T>C (PLP1)
ENST00000621218.4:c.-71T>C (PLP1)	ENSP00000484450.1:n.-71T>C
NM_000533.4:c.-71T>C (PLP1)	NP_000524.3:n.-71T>C
NM_001128834.2:c.-71T>C (PLP1)	NP_001122306.1:n.-71T>C
NM_001305004.1:c.-71T>C (PLP1)	NP_001291933.1:n.-71T>C
NM_199478.2:c.-71T>C (PLP1)	NP_955772.1:n.-71T>C
XR_244483.3:n.863-272A>G
NR_146558.1:n.458-272A>G (RAB9B)
NR_146560.1:n.744-272A>G (RAB9B)
NM_000533.5:c.-71T>C (PLP1) MANE Select	NP_000524.3:n.-71T>C
NM_199478.3:c.-71T>C (PLP1)	NP_955772.1:n.-71T>C
NM_001128834.3:c.-71T>C (PLP1)	NP_001122306.1:n.-71T>C
NR_146558.2:n.433-272A>G (RAB9B)
NR_146560.2:n.719-272A>G (RAB9B)