Canonical Allele Identifier: CA414103949

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787911C>G , CM000685.2:g.103787911C>G	GRCh38
NC_000023.10:g.103042840C>G , CM000685.1:g.103042840C>G	GRCh37
NC_000023.9:g.102929496C>G	NCBI36
NG_008863.2:g.16401C>G
NG_016452.2:g.49372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.567C>G (PLP1) MANE Select	ENSP00000484450.1:p.Phe189Leu
ENST00000461231.5:n.378C>G (PLP1)
ENST00000466486.1:n.403C>G (PLP1)
ENST00000478642.5:n.548C>G (PLP1)
ENST00000479569.5:n.613C>G (PLP1)
ENST00000485688.5:n.304C>G (PLP1)
ENST00000494119.1:n.113C>G (PLP1)
ENST00000612423.4:c.567C>G (PLP1)	ENSP00000481006.1:p.Phe189Leu
ENST00000619236.1:c.462C>G (PLP1)	ENSP00000477619.1:p.Phe154Leu
ENST00000621218.4:c.567C>G (PLP1)	ENSP00000484450.1:p.Phe189Leu
NM_000533.4:c.567C>G (PLP1)	NP_000524.3:p.Phe189Leu
NM_001128834.2:c.567C>G (PLP1)	NP_001122306.1:p.Phe189Leu
NM_001305004.1:c.402C>G (PLP1)	NP_001291933.1:p.Phe134Leu
NM_199478.2:c.462C>G (PLP1)	NP_955772.1:p.Phe154Leu
XR_244483.3:n.862+4770G>C
NR_146558.1:n.457+4770G>C (RAB9B)
NR_146560.1:n.743+4770G>C (RAB9B)
NM_000533.5:c.567C>G (PLP1) MANE Select	NP_000524.3:p.Phe189Leu
NM_199478.3:c.462C>G (PLP1)	NP_955772.1:p.Phe154Leu
NM_001128834.3:c.567C>G (PLP1)	NP_001122306.1:p.Phe189Leu
NR_146558.2:n.432+4770G>C (RAB9B)
NR_146560.2:n.718+4770G>C (RAB9B)