Canonical Allele Identifier: CA414103922

Gene: PLP1 RAB9B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787904T>G , CM000685.2:g.103787904T>G	GRCh38
NC_000023.10:g.103042833T>G , CM000685.1:g.103042833T>G	GRCh37
NC_000023.9:g.102929489T>G	NCBI36
NG_008863.2:g.16394T>G
NG_016452.2:g.49379A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.560T>G (PLP1) MANE Select	ENSP00000484450.1:p.Ile187Ser
ENST00000461231.5:n.371T>G (PLP1)
ENST00000466486.1:n.396T>G (PLP1)
ENST00000478642.5:n.541T>G (PLP1)
ENST00000479569.5:n.606T>G (PLP1)
ENST00000485688.5:n.297T>G (PLP1)
ENST00000494119.1:n.106T>G (PLP1)
ENST00000612423.4:c.560T>G (PLP1)	ENSP00000481006.1:p.Ile187Ser
ENST00000619236.1:c.455T>G (PLP1)	ENSP00000477619.1:p.Ile152Ser
ENST00000621218.4:c.560T>G (PLP1)	ENSP00000484450.1:p.Ile187Ser
NM_000533.4:c.560T>G (PLP1)	NP_000524.3:p.Ile187Ser
NM_001128834.2:c.560T>G (PLP1)	NP_001122306.1:p.Ile187Ser
NM_001305004.1:c.395T>G (PLP1)	NP_001291933.1:p.Ile132Ser
NM_199478.2:c.455T>G (PLP1)	NP_955772.1:p.Ile152Ser
XR_244483.3:n.862+4777A>C
NR_146558.1:n.457+4777A>C (RAB9B)
NR_146560.1:n.743+4777A>C (RAB9B)
NM_000533.5:c.560T>G (PLP1) MANE Select	NP_000524.3:p.Ile187Ser
NM_199478.3:c.455T>G (PLP1)	NP_955772.1:p.Ile152Ser
NM_001128834.3:c.560T>G (PLP1)	NP_001122306.1:p.Ile187Ser
NR_146558.2:n.432+4777A>C (RAB9B)
NR_146560.2:n.718+4777A>C (RAB9B)