Canonical Allele Identifier: CA2130441

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219554618G>A , CM000664.2:g.219554618G>A	GRCh38
NC_000002.11:g.220419340G>A , CM000664.1:g.220419340G>A	GRCh37
NC_000002.10:g.220127584G>A	NCBI36
NG_016977.1:g.21929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.4732C>T MANE Select	NP_056126.1:p.Gln1578Ter
ENST00000404537.6:c.4732C>T MANE Select	ENSP00000385636.1:p.Gln1578Ter
NM_015311.2:c.4732C>T	NP_056126.1:p.Gln1578Ter
ENST00000373876.5:c.4456C>T	ENSP00000362983.1:p.Gln1486Ter
ENST00000404537.5:c.4732C>T	ENSP00000385636.1:p.Gln1578Ter
ENST00000465149.1:n.3716+1402C>T
ENST00000596474.1:n.155C>T
XM_005246424.3:c.4456C>T	XP_005246481.1:p.Gln1486Ter
XM_011510854.1:c.4732C>T	XP_011509156.1:p.Gln1578Ter
XM_011510855.1:c.4732C>T	XP_011509157.1:p.Gln1578Ter
XM_011510856.1:c.4732C>T	XP_011509158.1:p.Gln1578Ter
XM_011510857.1:c.4732C>T	XP_011509159.1:p.Gln1578Ter
XM_011510857.2:c.4732C>T	XP_011509159.1:p.Gln1578Ter
XM_011510858.1:c.4732C>T	XP_011509160.1:p.Gln1578Ter
XM_011510859.1:c.4456C>T	XP_011509161.1:p.Gln1486Ter
XM_011510860.1:c.4456C>T	XP_011509162.1:p.Gln1486Ter
XM_011510861.1:c.4180C>T	XP_011509163.1:p.Gln1394Ter
XM_011510862.1:c.4732C>T	XP_011509164.1:p.Gln1578Ter
XM_011510863.1:c.4609+1402C>T	XP_011509165.1:n.4609+1402C>T
XM_011510863.3:c.4609+1402C>T	XP_011509165.1:n.4609+1402C>T
XM_011510865.1:c.*126C>T	XP_011509167.1:n.*126C>T
XM_011510865.2:c.*126C>T	XP_011509167.1:n.*126C>T
XM_017003696.2:c.4732C>T	XP_016859185.1:p.Gln1578Ter
XM_017003697.2:c.4732C>T	XP_016859186.1:p.Gln1578Ter
XM_017003698.1:c.4456C>T	XP_016859187.1:p.Gln1486Ter
XM_017003699.1:c.4456C>T	XP_016859188.1:p.Gln1486Ter
XM_017003700.1:c.4180C>T	XP_016859189.1:p.Gln1394Ter