Canonical Allele Identifier: CA10588736

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789400T>C , CM000685.2:g.103789400T>C	GRCh38
NC_000023.10:g.103044329T>C , CM000685.1:g.103044329T>C	GRCh37
NC_000023.9:g.102930985T>C	NCBI36
NG_008863.2:g.17890T>C
NG_016452.2:g.47883A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.762+2T>C (PLP1) MANE Select	ENSP00000484450.1:n.762+2T>C
ENST00000466486.1:n.598+2T>C (PLP1)
ENST00000485688.5:n.499+2T>C (PLP1)
ENST00000496836.1:n.492+2T>C (PLP1)
ENST00000612423.4:c.762+2T>C (PLP1)	ENSP00000481006.1:n.762+2T>C
ENST00000619236.1:c.657+2T>C (PLP1)	ENSP00000477619.1:n.657+2T>C
ENST00000621218.4:c.762+2T>C (PLP1)	ENSP00000484450.1:n.762+2T>C
NM_000533.4:c.762+2T>C (PLP1)	NP_000524.3:n.762+2T>C
NM_001128834.2:c.762+2T>C (PLP1)	NP_001122306.1:n.762+2T>C
NM_001305004.1:c.597+2T>C (PLP1)	NP_001291933.1:n.597+2T>C
NM_199478.2:c.657+2T>C (PLP1)	NP_955772.1:n.657+2T>C
XR_244483.3:n.862+3281A>G
NR_146558.1:n.457+3281A>G (RAB9B)
NR_146560.1:n.743+3281A>G (RAB9B)
NM_000533.5:c.762+2T>C (PLP1) MANE Select	NP_000524.3:n.762+2T>C
NM_199478.3:c.657+2T>C (PLP1)	NP_955772.1:n.657+2T>C
NM_001128834.3:c.762+2T>C (PLP1)	NP_001122306.1:n.762+2T>C
NR_146558.2:n.432+3281A>G (RAB9B)
NR_146560.2:n.718+3281A>G (RAB9B)