Canonical Allele Identifier: CA414104290

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103788461C>T , CM000685.2:g.103788461C>T	GRCh38
NC_000023.10:g.103043390C>T , CM000685.1:g.103043390C>T	GRCh37
NC_000023.9:g.102930046C>T	NCBI36
NG_008863.2:g.16951C>T
NG_016452.2:g.48822G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.647C>T (PLP1) MANE Select	NP_000524.3:p.Pro216Leu
ENST00000621218.5:c.647C>T (PLP1) MANE Select	ENSP00000484450.1:p.Pro216Leu
NM_000533.4:c.647C>T (PLP1)	NP_000524.3:p.Pro216Leu
NM_001128834.2:c.647C>T (PLP1)	NP_001122306.1:p.Pro216Leu
NM_001128834.3:c.647C>T (PLP1)	NP_001122306.1:p.Pro216Leu
NM_001305004.1:c.482C>T (PLP1)	NP_001291933.1:p.Pro161Leu
NM_199478.2:c.542C>T (PLP1)	NP_955772.1:p.Pro181Leu
NM_199478.3:c.542C>T (PLP1)	NP_955772.1:p.Pro181Leu
NR_146558.1:n.457+4220G>A (RAB9B)
NR_146558.2:n.432+4220G>A (RAB9B)
NR_146560.1:n.743+4220G>A (RAB9B)
NR_146560.2:n.718+4220G>A (RAB9B)
ENST00000461231.5:n.458C>T (PLP1)
ENST00000466486.1:n.483C>T (PLP1)
ENST00000485688.5:n.384C>T (PLP1)
ENST00000494119.1:n.193C>T (PLP1)
ENST00000612423.4:c.647C>T (PLP1)	ENSP00000481006.1:p.Pro216Leu
ENST00000619236.1:c.542C>T (PLP1)	ENSP00000477619.1:p.Pro181Leu
ENST00000621218.4:c.647C>T (PLP1)	ENSP00000484450.1:p.Pro216Leu
XR_244483.3:n.862+4220G>A