Canonical Allele Identifier: CA2130432

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219554572C>T , CM000664.2:g.219554572C>T	GRCh38
NC_000002.11:g.220419294C>T , CM000664.1:g.220419294C>T	GRCh37
NC_000002.10:g.220127538C>T	NCBI36
NG_016977.1:g.21975G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.4778G>A MANE Select	NP_056126.1:p.Arg1593His
ENST00000404537.6:c.4778G>A MANE Select	ENSP00000385636.1:p.Arg1593His
NM_015311.2:c.4778G>A	NP_056126.1:p.Arg1593His
ENST00000373876.5:c.4502G>A	ENSP00000362983.1:p.Arg1501His
ENST00000404537.5:c.4778G>A	ENSP00000385636.1:p.Arg1593His
ENST00000465149.1:n.3716+1448G>A
ENST00000596474.1:n.201G>A
XM_005246424.3:c.4502G>A	XP_005246481.1:p.Arg1501His
XM_011510854.1:c.4778G>A	XP_011509156.1:p.Arg1593His
XM_011510855.1:c.4778G>A	XP_011509157.1:p.Arg1593His
XM_011510856.1:c.4778G>A	XP_011509158.1:p.Arg1593His
XM_011510857.1:c.4778G>A	XP_011509159.1:p.Arg1593His
XM_011510857.2:c.4778G>A	XP_011509159.1:p.Arg1593His
XM_011510858.1:c.4778G>A	XP_011509160.1:p.Arg1593His
XM_011510859.1:c.4502G>A	XP_011509161.1:p.Arg1501His
XM_011510860.1:c.4502G>A	XP_011509162.1:p.Arg1501His
XM_011510861.1:c.4226G>A	XP_011509163.1:p.Arg1409His
XM_011510862.1:c.4778G>A	XP_011509164.1:p.Arg1593His
XM_011510863.1:c.4609+1448G>A	XP_011509165.1:n.4609+1448G>A
XM_011510863.3:c.4609+1448G>A	XP_011509165.1:n.4609+1448G>A
XM_011510865.1:c.*172G>A	XP_011509167.1:n.*172G>A
XM_011510865.2:c.*172G>A	XP_011509167.1:n.*172G>A
XM_017003696.2:c.4778G>A	XP_016859185.1:p.Arg1593His
XM_017003697.2:c.4778G>A	XP_016859186.1:p.Arg1593His
XM_017003698.1:c.4502G>A	XP_016859187.1:p.Arg1501His
XM_017003699.1:c.4502G>A	XP_016859188.1:p.Arg1501His
XM_017003700.1:c.4226G>A	XP_016859189.1:p.Arg1409His