Canonical Allele Identifier: CA414104917

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103790553C>A , CM000685.2:g.103790553C>A	GRCh38
NC_000023.10:g.103045481C>A , CM000685.1:g.103045481C>A	GRCh37
NC_000023.9:g.102932137C>A	NCBI36
NG_008863.2:g.19043C>A
NG_016452.2:g.46730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.789C>A (PLP1) MANE Select	ENSP00000484450.1:p.Tyr263Ter
ENST00000466486.1:n.625C>A (PLP1)
ENST00000485688.5:n.526C>A (PLP1)
ENST00000496836.1:n.519C>A (PLP1)
ENST00000612423.4:c.789C>A (PLP1)	ENSP00000481006.1:p.Tyr263Ter
ENST00000619236.1:c.684C>A (PLP1)	ENSP00000477619.1:p.Tyr228Ter
ENST00000621218.4:c.789C>A (PLP1)	ENSP00000484450.1:p.Tyr263Ter
NM_000533.4:c.789C>A (PLP1)	NP_000524.3:p.Tyr263Ter
NM_001128834.2:c.789C>A (PLP1)	NP_001122306.1:p.Tyr263Ter
NM_001305004.1:c.624C>A (PLP1)	NP_001291933.1:p.Tyr208Ter
NM_199478.2:c.684C>A (PLP1)	NP_955772.1:p.Tyr228Ter
XR_244483.3:n.862+2128G>T
NR_146558.1:n.457+2128G>T (RAB9B)
NR_146560.1:n.743+2128G>T (RAB9B)
NM_000533.5:c.789C>A (PLP1) MANE Select	NP_000524.3:p.Tyr263Ter
NM_199478.3:c.684C>A (PLP1)	NP_955772.1:p.Tyr228Ter
NM_001128834.3:c.789C>A (PLP1)	NP_001122306.1:p.Tyr263Ter
NR_146558.2:n.432+2128G>T (RAB9B)
NR_146560.2:n.718+2128G>T (RAB9B)