Canonical Allele Identifier: CA2130369

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219553622C>A , CM000664.2:g.219553622C>A	GRCh38
NC_000002.11:g.220418344C>A , CM000664.1:g.220418344C>A	GRCh37
NC_000002.10:g.220126588C>A	NCBI36
NG_016977.1:g.22925G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.4941G>T MANE Select	NP_056126.1:p.Thr1647=
ENST00000404537.6:c.4941G>T MANE Select	ENSP00000385636.1:p.Thr1647=
NM_015311.2:c.4941G>T	NP_056126.1:p.Thr1647=
ENST00000373876.5:c.4665G>T	ENSP00000362983.1:p.Thr1555=
ENST00000404537.5:c.4941G>T	ENSP00000385636.1:p.Thr1647=
ENST00000465149.1:n.3717-598G>T
XM_005246424.3:c.4665G>T	XP_005246481.1:p.Thr1555=
XM_011510854.1:c.4998G>T	XP_011509156.1:p.Thr1666=
XM_011510855.1:c.4998G>T	XP_011509157.1:p.Thr1666=
XM_011510856.1:c.4998G>T	XP_011509158.1:p.Thr1666=
XM_011510857.1:c.4941G>T	XP_011509159.1:p.Thr1647=
XM_011510857.2:c.4941G>T	XP_011509159.1:p.Thr1647=
XM_011510858.1:c.4998G>T	XP_011509160.1:p.Thr1666=
XM_011510859.1:c.4722G>T	XP_011509161.1:p.Thr1574=
XM_011510860.1:c.4722G>T	XP_011509162.1:p.Thr1574=
XM_011510861.1:c.4446G>T	XP_011509163.1:p.Thr1482=
XM_011510862.1:c.4934-598G>T	XP_011509164.1:n.4934-598G>T
XM_011510863.1:c.4610-598G>T	XP_011509165.1:n.4610-598G>T
XM_011510863.3:c.4610-598G>T	XP_011509165.1:n.4610-598G>T
XM_017003696.2:c.4941G>T	XP_016859185.1:p.Thr1647=
XM_017003697.2:c.4941G>T	XP_016859186.1:p.Thr1647=
XM_017003698.1:c.4665G>T	XP_016859187.1:p.Thr1555=
XM_017003699.1:c.4665G>T	XP_016859188.1:p.Thr1555=
XM_017003700.1:c.4389G>T	XP_016859189.1:p.Thr1463=