Canonical Allele Identifier: CA2130555
Community Standard Title: NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=)
Gene: OBSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219556210G>A , CM000664.2:g.219556210G>A GRCh38
NC_000002.11:g.220420932G>A , CM000664.1:g.220420932G>A GRCh37
NC_000002.10:g.220129176G>A NCBI36
NG_016977.1:g.20337C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015311.3:c.4419C>T MANE Select NP_056126.1:p.Gly1473=
ENST00000404537.6:c.4419C>T MANE Select ENSP00000385636.1:p.Gly1473=
NM_001173431.1:c.4419C>T NP_001166902.1:p.Gly1473=
NM_001173431.2:c.4419C>T NP_001166902.1:p.Gly1473=
NM_015311.2:c.4419C>T NP_056126.1:p.Gly1473=
ENST00000373876.5:c.4143C>T ENSP00000362983.1:p.Gly1381=
ENST00000404537.5:c.4419C>T ENSP00000385636.1:p.Gly1473=
ENST00000456147.1:c.1124C>T
ENST00000465149.1:n.3526C>T
ENST00000603926.5:c.4419C>T ENSP00000474519.1:p.Gly1473=
ENST00000604031.5:c.1025C>T
XM_005246424.3:c.4143C>T XP_005246481.1:p.Gly1381=
XM_005246427.3:c.3867C>T XP_005246484.1:p.Gly1289=
XM_011510854.1:c.4419C>T XP_011509156.1:p.Gly1473=
XM_011510855.1:c.4419C>T XP_011509157.1:p.Gly1473=
XM_011510856.1:c.4419C>T XP_011509158.1:p.Gly1473=
XM_011510857.1:c.4419C>T XP_011509159.1:p.Gly1473=
XM_011510857.2:c.4419C>T XP_011509159.1:p.Gly1473=
XM_011510858.1:c.4419C>T XP_011509160.1:p.Gly1473=
XM_011510859.1:c.4143C>T XP_011509161.1:p.Gly1381=
XM_011510860.1:c.4143C>T XP_011509162.1:p.Gly1381=
XM_011510861.1:c.3867C>T XP_011509163.1:p.Gly1289=
XM_011510862.1:c.4419C>T XP_011509164.1:p.Gly1473=
XM_011510863.1:c.4419C>T XP_011509165.1:p.Gly1473=
XM_011510863.3:c.4419C>T XP_011509165.1:p.Gly1473=
XM_011510864.1:c.4295C>T XP_011509166.1:p.Ala1432Val
XM_011510864.2:c.4295C>T XP_011509166.1:p.Ala1432Val
XM_011510865.1:c.4295C>T XP_011509167.1:p.Ala1432Val
XM_011510865.2:c.4295C>T XP_011509167.1:p.Ala1432Val
XM_011510866.1:c.4019C>T XP_011509168.1:p.Ala1340Val
XM_011510866.2:c.4019C>T XP_011509168.1:p.Ala1340Val
XM_017003696.2:c.4419C>T XP_016859185.1:p.Gly1473=
XM_017003697.2:c.4419C>T XP_016859186.1:p.Gly1473=
XM_017003698.1:c.4143C>T XP_016859187.1:p.Gly1381=
XM_017003699.1:c.4143C>T XP_016859188.1:p.Gly1381=
XM_017003700.1:c.3867C>T XP_016859189.1:p.Gly1289=