Canonical Allele Identifier: CA340563310

Gene: OSBPL9

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51652037T>C , CM000663.2:g.51652037T>C	GRCh38
NC_000001.10:g.52117709T>C , CM000663.1:g.52117709T>C	GRCh37
NC_000001.9:g.51890297T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428468.6:c.158T>C MANE Select	ENSP00000407168.1:p.Leu53Pro
ENST00000371714.5:c.158T>C	ENSP00000360779.1:p.Leu53Pro
ENST00000428468.5:c.158T>C	ENSP00000407168.1:p.Leu53Pro
ENST00000435274.6:c.158T>C	ENSP00000390113.2:p.Leu53Pro
ENST00000447887.5:c.158T>C	ENSP00000412733.1:p.Leu53Pro
ENST00000453295.5:c.112-17397T>C	ENSP00000413263.1:n.112-17397T>C
ENST00000489990.5:c.155T>C	ENSP00000434798.1:p.Leu52Pro
ENST00000495776.5:c.177T>C
NM_024586.5:c.158T>C	NP_078862.4:p.Leu53Pro
NM_148906.2:c.112-17397T>C	NP_683704.2:n.112-17397T>C
NM_148908.3:c.158T>C	NP_683706.3:p.Leu53Pro
NM_148909.3:c.158T>C	NP_683707.3:p.Leu53Pro
NR_036662.1:n.395T>C
XM_006710318.1:c.158T>C	XP_006710381.1:p.Leu53Pro
XM_006710324.2:c.-259T>C	XP_006710387.1:n.-259T>C
XM_006710325.2:c.-229T>C	XP_006710388.1:n.-229T>C
XM_011540599.1:c.158T>C	XP_011538901.1:p.Leu53Pro
XM_011540600.1:c.158T>C	XP_011538902.1:p.Leu53Pro
XM_011540601.1:c.158T>C	XP_011538903.1:p.Leu53Pro
XM_011540602.1:c.35T>C	XP_011538904.1:p.Leu12Pro
XM_011540603.1:c.-328T>C	XP_011538905.1:n.-328T>C
XM_011540605.1:c.158T>C	XP_011538907.1:p.Leu53Pro
NM_001350208.1:c.-585T>C	NP_001337137.1:n.-585T>C
NM_001350209.1:c.-575T>C	NP_001337138.1:n.-575T>C
XM_006710318.2:c.158T>C	XP_006710381.1:p.Leu53Pro
XM_006710324.3:c.-259T>C	XP_006710387.1:n.-259T>C
XM_006710325.3:c.-229T>C	XP_006710388.1:n.-229T>C
XM_011540599.2:c.158T>C	XP_011538901.1:p.Leu53Pro
XM_011540600.2:c.158T>C	XP_011538902.1:p.Leu53Pro
XM_011540601.2:c.158T>C	XP_011538903.1:p.Leu53Pro
XM_011540603.2:c.-328T>C	XP_011538905.1:n.-328T>C
XM_017000218.1:c.158T>C	XP_016855707.1:p.Leu53Pro
XM_017000219.1:c.-328T>C	XP_016855708.1:n.-328T>C
XR_001736953.1:n.180T>C
XR_001736954.1:n.180T>C
XR_001736955.2:n.184T>C
NM_024586.6:c.158T>C MANE Select	NP_078862.4:p.Leu53Pro
NM_001350208.2:c.-585T>C	NP_001337137.1:n.-585T>C
NM_001350209.2:c.-575T>C	NP_001337138.1:n.-575T>C
NM_148906.3:c.112-17397T>C	NP_683704.2:n.112-17397T>C
NM_148908.4:c.158T>C	NP_683706.3:p.Leu53Pro
NM_148909.4:c.158T>C	NP_683707.3:p.Leu53Pro
NR_036662.2:n.177T>C