Canonical Allele Identifier: CA2130181

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219551619G>A , CM000664.2:g.219551619G>A	GRCh38
NC_000002.11:g.220416341G>A , CM000664.1:g.220416341G>A	GRCh37
NC_000002.10:g.220124585G>A	NCBI36
NG_016977.1:g.24928C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.5593C>T MANE Select	NP_056126.1:p.Leu1865=
ENST00000404537.6:c.5593C>T MANE Select	ENSP00000385636.1:p.Leu1865=
NM_015311.2:c.5593C>T	NP_056126.1:p.Leu1865=
ENST00000373876.5:c.5317C>T	ENSP00000362983.1:p.Leu1773=
ENST00000404537.5:c.5593C>T	ENSP00000385636.1:p.Leu1865=
ENST00000462534.5:n.458C>T
ENST00000465149.1:n.4490C>T
ENST00000489804.5:n.464C>T
XM_005246424.3:c.5317C>T	XP_005246481.1:p.Leu1773=
XM_011510854.1:c.5650C>T	XP_011509156.1:p.Leu1884=
XM_011510855.1:c.5650C>T	XP_011509157.1:p.Leu1884=
XM_011510856.1:c.5650C>T	XP_011509158.1:p.Leu1884=
XM_011510857.1:c.5593C>T	XP_011509159.1:p.Leu1865=
XM_011510857.2:c.5593C>T	XP_011509159.1:p.Leu1865=
XM_011510858.1:c.5650C>T	XP_011509160.1:p.Leu1884=
XM_011510859.1:c.5374C>T	XP_011509161.1:p.Leu1792=
XM_011510860.1:c.5374C>T	XP_011509162.1:p.Leu1792=
XM_011510861.1:c.5098C>T	XP_011509163.1:p.Leu1700=
XM_017003696.2:c.5593C>T	XP_016859185.1:p.Leu1865=
XM_017003697.2:c.5593C>T	XP_016859186.1:p.Leu1865=
XM_017003698.1:c.5317C>T	XP_016859187.1:p.Leu1773=
XM_017003699.1:c.5317C>T	XP_016859188.1:p.Leu1773=
XM_017003700.1:c.5041C>T	XP_016859189.1:p.Leu1681=