Canonical Allele Identifier: CA644062727

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103786734T>C , CM000685.2:g.103786734T>C	GRCh38
NC_000023.10:g.103041663T>C , CM000685.1:g.103041663T>C	GRCh37
NC_000023.9:g.102928319T>C	NCBI36
NG_008863.2:g.15224T>C
NG_016452.2:g.50549A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.453+8T>C (PLP1) MANE Select	NP_000524.3:n.453+8T>C
ENST00000621218.5:c.453+8T>C (PLP1) MANE Select	ENSP00000484450.1:n.453+8T>C
NM_000533.4:c.453+8T>C (PLP1)	NP_000524.3:n.453+8T>C
NM_001128834.2:c.453+8T>C (PLP1)	NP_001122306.1:n.453+8T>C
NM_001128834.3:c.453+8T>C (PLP1)	NP_001122306.1:n.453+8T>C
NM_001305004.1:c.288+8T>C (PLP1)	NP_001291933.1:n.288+8T>C
NM_199478.2:c.348+113T>C (PLP1)	NP_955772.1:n.348+113T>C
NM_199478.3:c.348+113T>C (PLP1)	NP_955772.1:n.348+113T>C
NR_146558.1:n.457+5947A>G (RAB9B)
NR_146558.2:n.432+5947A>G (RAB9B)
NR_146560.1:n.743+5947A>G (RAB9B)
NR_146560.2:n.718+5947A>G (RAB9B)
ENST00000461231.5:n.264+113T>C (PLP1)
ENST00000465975.1:n.319T>C (PLP1)
ENST00000476160.1:n.440T>C (PLP1)
ENST00000478642.5:n.434+8T>C (PLP1)
ENST00000479569.5:n.499+113T>C (PLP1)
ENST00000485688.5:n.190+113T>C (PLP1)
ENST00000485931.5:n.539T>C (PLP1)
ENST00000612423.4:c.453+8T>C (PLP1)	ENSP00000481006.1:n.453+8T>C
ENST00000619236.1:c.348+113T>C (PLP1)	ENSP00000477619.1:n.348+113T>C
ENST00000621218.4:c.453+8T>C (PLP1)	ENSP00000484450.1:n.453+8T>C
XR_244483.3:n.862+5947A>G