Canonical Allele Identifier: CA14511926

Gene: OSBPL1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24169651G>A , CM000680.2:g.24169651G>A	GRCh38
NC_000018.9:g.21749615G>A , CM000680.1:g.21749615G>A	GRCh37
NC_000018.8:g.20003613G>A	NCBI36
NG_029432.1:g.233219C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080597.4:c.2418+676C>T MANE Select	NP_542164.2:n.2418+676C>T
ENST00000319481.8:c.2418+676C>T MANE Select	ENSP00000320291.3:n.2418+676C>T
NM_001242508.1:c.1272+676C>T	NP_001229437.1:n.1272+676C>T
NM_018030.4:c.879+676C>T	NP_060500.3:n.879+676C>T
NM_080597.3:c.2418+676C>T	NP_542164.2:n.2418+676C>T
ENST00000319481.7:c.2418+676C>T	ENSP00000320291.3:n.2418+676C>T
ENST00000357041.8:c.1272+676C>T	ENSP00000349545.4:n.1272+676C>T
ENST00000399443.7:c.879+676C>T	ENSP00000382372.3:n.879+676C>T
ENST00000578013.1:c.423+676C>T	ENSP00000464617.1:n.423+676C>T
XM_006722380.2:c.2343+676C>T	XP_006722443.1:n.2343+676C>T
XM_006722380.3:c.2343+676C>T	XP_006722443.1:n.2343+676C>T
XM_006722381.2:c.2310+676C>T	XP_006722444.1:n.2310+676C>T
XM_006722382.2:c.2283+676C>T	XP_006722445.1:n.2283+676C>T
XM_006722382.4:c.2283+676C>T	XP_006722445.1:n.2283+676C>T
XM_006722383.2:c.2235+676C>T	XP_006722446.1:n.2235+676C>T
XM_017025530.1:c.2472+676C>T	XP_016881019.1:n.2472+676C>T
XM_017025531.2:c.2235+676C>T	XP_016881020.1:n.2235+676C>T
XM_017025533.2:c.879+676C>T	XP_016881022.1:n.879+676C>T
XR_001753139.2:n.2344+676C>T