Canonical Allele Identifier: CA414104495

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789332G>A , CM000685.2:g.103789332G>A	GRCh38
NC_000023.10:g.103044261G>A , CM000685.1:g.103044261G>A	GRCh37
NC_000023.9:g.102930917G>A	NCBI36
NG_008863.2:g.17822G>A
NG_016452.2:g.47951C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.697-1G>A (PLP1) MANE Select	NP_000524.3:n.697-1G>A
ENST00000621218.5:c.697-1G>A (PLP1) MANE Select	ENSP00000484450.1:n.697-1G>A
NM_000533.4:c.697-1G>A (PLP1)	NP_000524.3:n.697-1G>A
NM_001128834.2:c.697-1G>A (PLP1)	NP_001122306.1:n.697-1G>A
NM_001128834.3:c.697-1G>A (PLP1)	NP_001122306.1:n.697-1G>A
NM_001305004.1:c.532-1G>A (PLP1)	NP_001291933.1:n.532-1G>A
NM_199478.2:c.592-1G>A (PLP1)	NP_955772.1:n.592-1G>A
NM_199478.3:c.592-1G>A (PLP1)	NP_955772.1:n.592-1G>A
NR_146558.1:n.457+3349C>T (RAB9B)
NR_146558.2:n.432+3349C>T (RAB9B)
NR_146560.1:n.743+3349C>T (RAB9B)
NR_146560.2:n.718+3349C>T (RAB9B)
ENST00000461231.5:n.508-1G>A (PLP1)
ENST00000466486.1:n.533-1G>A (PLP1)
ENST00000485688.5:n.434-1G>A (PLP1)
ENST00000496836.1:n.426G>A (PLP1)
ENST00000612423.4:c.697-1G>A (PLP1)	ENSP00000481006.1:n.697-1G>A
ENST00000619236.1:c.592-1G>A (PLP1)	ENSP00000477619.1:n.592-1G>A
ENST00000621218.4:c.697-1G>A (PLP1)	ENSP00000484450.1:n.697-1G>A
XR_244483.3:n.862+3349C>T