Canonical Allele Identifier: CA1139667738

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103787484T>G , CM000685.2:g.103787484T>G	GRCh38
NC_000023.10:g.103042413T>G , CM000685.1:g.103042413T>G	GRCh37
NC_000023.9:g.102929069T>G	NCBI36
NG_008863.2:g.15974T>G
NG_016452.2:g.49799A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.454-314T>G (PLP1) MANE Select	NP_000524.3:n.454-314T>G
ENST00000621218.5:c.454-314T>G (PLP1) MANE Select	ENSP00000484450.1:n.454-314T>G
NM_000533.4:c.454-314T>G (PLP1)	NP_000524.3:n.454-314T>G
NM_001128834.2:c.454-314T>G (PLP1)	NP_001122306.1:n.454-314T>G
NM_001128834.3:c.454-314T>G (PLP1)	NP_001122306.1:n.454-314T>G
NM_001305004.1:c.289-314T>G (PLP1)	NP_001291933.1:n.289-314T>G
NM_199478.2:c.349-314T>G (PLP1)	NP_955772.1:n.349-314T>G
NM_199478.3:c.349-314T>G (PLP1)	NP_955772.1:n.349-314T>G
NR_146558.1:n.457+5197A>C (RAB9B)
NR_146558.2:n.432+5197A>C (RAB9B)
NR_146560.1:n.743+5197A>C (RAB9B)
NR_146560.2:n.718+5197A>C (RAB9B)
ENST00000461231.5:n.265-314T>G (PLP1)
ENST00000478642.5:n.435-314T>G (PLP1)
ENST00000479569.5:n.500-314T>G (PLP1)
ENST00000485688.5:n.191-314T>G (PLP1)
ENST00000612423.4:c.454-314T>G (PLP1)	ENSP00000481006.1:n.454-314T>G
ENST00000619236.1:c.349-314T>G (PLP1)	ENSP00000477619.1:n.349-314T>G
ENST00000621218.4:c.454-314T>G (PLP1)	ENSP00000484450.1:n.454-314T>G
XR_244483.3:n.862+5197A>C