Canonical Allele Identifier: CA16043654
Gene: OBSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374350
dbSNP Id: rs1057518717

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219557454G>A , CM000664.2:g.219557454G>A GRCh38
NC_000002.11:g.220422176G>A , CM000664.1:g.220422176G>A GRCh37
NC_000002.10:g.220130420G>A NCBI36
NG_016977.1:g.19093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000404537.6:c.3955C>T MANE Select ENSP00000385636.1:p.Gln1319Ter
ENST00000373876.5:c.3790+369C>T ENSP00000362983.1:n.3790+369C>T
ENST00000404537.5:c.3955C>T ENSP00000385636.1:p.Gln1319Ter
ENST00000456147.1:c.771+369C>T
ENST00000465149.1:n.3186C>T
ENST00000603926.5:c.3955C>T ENSP00000474519.1:p.Gln1319Ter
ENST00000604031.5:c.672+369C>T
NM_001173431.1:c.3955C>T NP_001166902.1:p.Gln1319Ter
NM_015311.2:c.3955C>T NP_056126.1:p.Gln1319Ter
XM_005246424.3:c.3790+369C>T XP_005246481.1:n.3790+369C>T
XM_005246427.3:c.3514+369C>T XP_005246484.1:n.3514+369C>T
XM_011510854.1:c.3955C>T XP_011509156.1:p.Gln1319Ter
XM_011510855.1:c.3955C>T XP_011509157.1:p.Gln1319Ter
XM_011510856.1:c.3955C>T XP_011509158.1:p.Gln1319Ter
XM_011510857.1:c.3955C>T XP_011509159.1:p.Gln1319Ter
XM_011510858.1:c.3955C>T XP_011509160.1:p.Gln1319Ter
XM_011510859.1:c.3790+369C>T XP_011509161.1:n.3790+369C>T
XM_011510860.1:c.3679C>T XP_011509162.1:p.Gln1227Ter
XM_011510861.1:c.3514+369C>T XP_011509163.1:n.3514+369C>T
XM_011510862.1:c.3955C>T XP_011509164.1:p.Gln1319Ter
XM_011510863.1:c.3955C>T XP_011509165.1:p.Gln1319Ter
XM_011510864.1:c.3955C>T XP_011509166.1:p.Gln1319Ter
XM_011510865.1:c.3955C>T XP_011509167.1:p.Gln1319Ter
XM_011510866.1:c.3679C>T XP_011509168.1:p.Gln1227Ter
XM_011510857.2:c.3955C>T XP_011509159.1:p.Gln1319Ter
XM_011510863.3:c.3955C>T XP_011509165.1:p.Gln1319Ter
XM_011510864.2:c.3955C>T XP_011509166.1:p.Gln1319Ter
XM_011510865.2:c.3955C>T XP_011509167.1:p.Gln1319Ter
XM_011510866.2:c.3679C>T XP_011509168.1:p.Gln1227Ter
XM_017003696.2:c.3955C>T XP_016859185.1:p.Gln1319Ter
XM_017003697.2:c.3955C>T XP_016859186.1:p.Gln1319Ter
XM_017003698.1:c.3790+369C>T XP_016859187.1:n.3790+369C>T
XM_017003699.1:c.3679C>T XP_016859188.1:p.Gln1227Ter
XM_017003700.1:c.3514+369C>T XP_016859189.1:n.3514+369C>T
NM_015311.3:c.3955C>T MANE Select NP_056126.1:p.Gln1319Ter
NM_001173431.2:c.3955C>T NP_001166902.1:p.Gln1319Ter