Canonical Allele Identifier: CA2130320

Gene: OBSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219552615C>A , CM000664.2:g.219552615C>A	GRCh38
NC_000002.11:g.220417337C>A , CM000664.1:g.220417337C>A	GRCh37
NC_000002.10:g.220125581C>A	NCBI36
NG_016977.1:g.23932G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015311.3:c.5229G>T MANE Select	NP_056126.1:p.Ser1743=
ENST00000404537.6:c.5229G>T MANE Select	ENSP00000385636.1:p.Ser1743=
NM_015311.2:c.5229G>T	NP_056126.1:p.Ser1743=
ENST00000373876.5:c.4953G>T	ENSP00000362983.1:p.Ser1651=
ENST00000404537.5:c.5229G>T	ENSP00000385636.1:p.Ser1743=
ENST00000465149.1:n.4126G>T
ENST00000489804.5:n.100G>T
XM_005246424.3:c.4953G>T	XP_005246481.1:p.Ser1651=
XM_011510854.1:c.5286G>T	XP_011509156.1:p.Ser1762=
XM_011510855.1:c.5286G>T	XP_011509157.1:p.Ser1762=
XM_011510856.1:c.5286G>T	XP_011509158.1:p.Ser1762=
XM_011510857.1:c.5229G>T	XP_011509159.1:p.Ser1743=
XM_011510857.2:c.5229G>T	XP_011509159.1:p.Ser1743=
XM_011510858.1:c.5286G>T	XP_011509160.1:p.Ser1762=
XM_011510859.1:c.5010G>T	XP_011509161.1:p.Ser1670=
XM_011510860.1:c.5010G>T	XP_011509162.1:p.Ser1670=
XM_011510861.1:c.4734G>T	XP_011509163.1:p.Ser1578=
XM_017003696.2:c.5229G>T	XP_016859185.1:p.Ser1743=
XM_017003697.2:c.5229G>T	XP_016859186.1:p.Ser1743=
XM_017003698.1:c.4953G>T	XP_016859187.1:p.Ser1651=
XM_017003699.1:c.4953G>T	XP_016859188.1:p.Ser1651=
XM_017003700.1:c.4677G>T	XP_016859189.1:p.Ser1559=