Canonical Allele Identifier: CA431448651
Gene: OBSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1587200
ClinVar RCV Id: RCV002103095
dbSNP Id: rs2106011215
MyVariant Identifiers: chr2:g.220417729C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219553007C>T , CM000664.2:g.219553007C>T GRCh38
NC_000002.11:g.220417729C>T , CM000664.1:g.220417729C>T GRCh37
NC_000002.10:g.220125973C>T NCBI36
NG_016977.1:g.23540G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404537.6:c.5007G>A MANE Select ENSP00000385636.1:p.Thr1669=
ENST00000373876.5:c.4731G>A ENSP00000362983.1:p.Thr1577=
ENST00000404537.5:c.5007G>A ENSP00000385636.1:p.Thr1669=
ENST00000465149.1:n.3734G>A
NM_015311.2:c.5007G>A NP_056126.1:p.Thr1669=
XM_005246424.3:c.4731G>A XP_005246481.1:p.Thr1577=
XM_011510854.1:c.5064G>A XP_011509156.1:p.Thr1688=
XM_011510855.1:c.5064G>A XP_011509157.1:p.Thr1688=
XM_011510856.1:c.5064G>A XP_011509158.1:p.Thr1688=
XM_011510857.1:c.5007G>A XP_011509159.1:p.Thr1669=
XM_011510858.1:c.5064G>A XP_011509160.1:p.Thr1688=
XM_011510859.1:c.4788G>A XP_011509161.1:p.Thr1596=
XM_011510860.1:c.4788G>A XP_011509162.1:p.Thr1596=
XM_011510861.1:c.4512G>A XP_011509163.1:p.Thr1504=
XM_011510862.1:c.4951G>A XP_011509164.1:p.Ala1651Thr
XM_011510863.1:c.4627G>A XP_011509165.1:p.Ala1543Thr
XM_011510857.2:c.5007G>A XP_011509159.1:p.Thr1669=
XM_011510863.3:c.4627G>A XP_011509165.1:p.Ala1543Thr
XM_017003696.2:c.5007G>A XP_016859185.1:p.Thr1669=
XM_017003697.2:c.5007G>A XP_016859186.1:p.Thr1669=
XM_017003698.1:c.4731G>A XP_016859187.1:p.Thr1577=
XM_017003699.1:c.4731G>A XP_016859188.1:p.Thr1577=
XM_017003700.1:c.4455G>A XP_016859189.1:p.Thr1485=
NM_015311.3:c.5007G>A MANE Select NP_056126.1:p.Thr1669=