Canonical Allele Identifier: CA402074314

Gene: OSBPL1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24166614C>T , CM000680.2:g.24166614C>T	GRCh38
NC_000018.9:g.21746578C>T , CM000680.1:g.21746578C>T	GRCh37
NC_000018.8:g.20000576C>T	NCBI36
NG_029432.1:g.236256G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080597.4:c.2624G>A MANE Select	NP_542164.2:p.Arg875Gln
ENST00000319481.8:c.2624G>A MANE Select	ENSP00000320291.3:p.Arg875Gln
NM_001242508.1:c.1478G>A	NP_001229437.1:p.Arg493Gln
NM_018030.4:c.1085G>A	NP_060500.3:p.Arg362Gln
NM_080597.3:c.2624G>A	NP_542164.2:p.Arg875Gln
ENST00000319481.7:c.2624G>A	ENSP00000320291.3:p.Arg875Gln
ENST00000357041.8:c.1478G>A	ENSP00000349545.4:p.Arg493Gln
ENST00000399443.7:c.1085G>A	ENSP00000382372.3:p.Arg362Gln
ENST00000578013.1:c.629G>A	ENSP00000464617.1:p.Arg210Gln
XM_006722380.2:c.2549G>A	XP_006722443.1:p.Arg850Gln
XM_006722380.3:c.2549G>A	XP_006722443.1:p.Arg850Gln
XM_006722381.2:c.2516G>A	XP_006722444.1:p.Arg839Gln
XM_006722382.2:c.2489G>A	XP_006722445.1:p.Arg830Gln
XM_006722382.4:c.2489G>A	XP_006722445.1:p.Arg830Gln
XM_006722383.2:c.2441G>A	XP_006722446.1:p.Arg814Gln
XM_017025530.1:c.2678G>A	XP_016881019.1:p.Arg893Gln
XM_017025531.2:c.2441G>A	XP_016881020.1:p.Arg814Gln
XM_017025533.2:c.1085G>A	XP_016881022.1:p.Arg362Gln
XR_001753139.2:n.2550G>A