Canonical Allele Identifier: CA2130531

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219556152C>T , CM000664.2:g.219556152C>T	GRCh38
NC_000002.11:g.220420874C>T , CM000664.1:g.220420874C>T	GRCh37
NC_000002.10:g.220129118C>T	NCBI36
NG_016977.1:g.20395G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.4477G>A MANE Select	NP_056126.1:p.Asp1493Asn
ENST00000404537.6:c.4477G>A MANE Select	ENSP00000385636.1:p.Asp1493Asn
NM_001173431.1:c.4477G>A	NP_001166902.1:p.Asp1493Asn
NM_001173431.2:c.4477G>A	NP_001166902.1:p.Asp1493Asn
NM_015311.2:c.4477G>A	NP_056126.1:p.Asp1493Asn
ENST00000373876.5:c.4201G>A	ENSP00000362983.1:p.Asp1401Asn
ENST00000404537.5:c.4477G>A	ENSP00000385636.1:p.Asp1493Asn
ENST00000456147.1:c.1182G>A
ENST00000465149.1:n.3584G>A
ENST00000603926.5:c.4477G>A	ENSP00000474519.1:p.Asp1493Asn
ENST00000604031.5:c.1083G>A
XM_005246424.3:c.4201G>A	XP_005246481.1:p.Asp1401Asn
XM_005246427.3:c.3925G>A	XP_005246484.1:p.Asp1309Asn
XM_011510854.1:c.4477G>A	XP_011509156.1:p.Asp1493Asn
XM_011510855.1:c.4477G>A	XP_011509157.1:p.Asp1493Asn
XM_011510856.1:c.4477G>A	XP_011509158.1:p.Asp1493Asn
XM_011510857.1:c.4477G>A	XP_011509159.1:p.Asp1493Asn
XM_011510857.2:c.4477G>A	XP_011509159.1:p.Asp1493Asn
XM_011510858.1:c.4477G>A	XP_011509160.1:p.Asp1493Asn
XM_011510859.1:c.4201G>A	XP_011509161.1:p.Asp1401Asn
XM_011510860.1:c.4201G>A	XP_011509162.1:p.Asp1401Asn
XM_011510861.1:c.3925G>A	XP_011509163.1:p.Asp1309Asn
XM_011510862.1:c.4477G>A	XP_011509164.1:p.Asp1493Asn
XM_011510863.1:c.4477G>A	XP_011509165.1:p.Asp1493Asn
XM_011510863.3:c.4477G>A	XP_011509165.1:p.Asp1493Asn
XM_011510864.1:c.4353G>A	XP_011509166.1:p.Thr1451=
XM_011510864.2:c.4353G>A	XP_011509166.1:p.Thr1451=
XM_011510865.1:c.4353G>A	XP_011509167.1:p.Thr1451=
XM_011510865.2:c.4353G>A	XP_011509167.1:p.Thr1451=
XM_011510866.1:c.4077G>A	XP_011509168.1:p.Thr1359=
XM_011510866.2:c.4077G>A	XP_011509168.1:p.Thr1359=
XM_017003696.2:c.4477G>A	XP_016859185.1:p.Asp1493Asn
XM_017003697.2:c.4477G>A	XP_016859186.1:p.Asp1493Asn
XM_017003698.1:c.4201G>A	XP_016859187.1:p.Asp1401Asn
XM_017003699.1:c.4201G>A	XP_016859188.1:p.Asp1401Asn
XM_017003700.1:c.3925G>A	XP_016859189.1:p.Asp1309Asn