Canonical Allele Identifier: CA5103037
Gene: KIF27 HGNC NCBI

Linked Data

ClinVar Variation Id: 403015
ClinVar RCV Id: RCV000454440
dbSNP Id: rs13289566
gnomAD v2: 9-86504005-C-T
gnomAD v3: 9-83889090-C-T
gnomAD v4: 9-83889090-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83889090C>T , CM000671.2:g.83889090C>T GRCh38
NC_000009.11:g.86504005C>T , CM000671.1:g.86504005C>T GRCh37
NC_000009.10:g.85693825C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297814.7:c.1973G>A MANE Select ENSP00000297814.2:p.Gly658Glu
ENST00000297814.6:c.1973G>A ENSP00000297814.2:p.Gly658Glu
ENST00000334204.6:c.1973G>A ENSP00000333928.2:p.Gly658Glu
ENST00000376347.1:c.146G>A ENSP00000365525.1:p.Gly49Glu
ENST00000413982.5:c.1973G>A ENSP00000401688.1:p.Gly658Glu
NM_001271927.1:c.1973G>A NP_001258856.1:p.Gly658Glu
NM_001271928.1:c.1973G>A NP_001258857.1:p.Gly658Glu
NM_017576.2:c.1973G>A NP_060046.1:p.Gly658Glu
XM_011518848.1:c.2051G>A XP_011517150.1:p.Gly684Glu
XM_011518849.1:c.2051G>A XP_011517151.1:p.Gly684Glu
XM_011518850.1:c.2051G>A XP_011517152.1:p.Gly684Glu
XM_011518851.1:c.2051G>A XP_011517153.1:p.Gly684Glu
XM_011518852.1:c.2051G>A XP_011517154.1:p.Gly684Glu
XM_011518853.1:c.2051G>A XP_011517155.1:p.Gly684Glu
XM_011518854.1:c.2051G>A XP_011517156.1:p.Gly684Glu
XM_011518855.1:c.2051G>A XP_011517157.1:p.Gly684Glu
XM_011518856.1:c.2051G>A XP_011517158.1:p.Gly684Glu
XM_011518857.1:c.977G>A XP_011517159.1:p.Gly326Glu
XM_011518858.1:c.611G>A XP_011517160.1:p.Gly204Glu
XM_011518859.1:c.146G>A XP_011517161.1:p.Gly49Glu
XR_242632.2:n.368-46C>T
XR_929825.1:n.2314G>A
XR_929826.1:n.2314G>A
XR_929827.1:n.2314G>A
NM_001271927.2:c.1973G>A NP_001258856.1:p.Gly658Glu
NM_001271928.2:c.1973G>A NP_001258857.1:p.Gly658Glu
NM_001354069.1:c.1973G>A NP_001340998.1:p.Gly658Glu
NM_001354070.1:c.533G>A NP_001340999.1:p.Gly178Glu
NM_001354071.1:c.533G>A NP_001341000.1:p.Gly178Glu
NM_017576.3:c.1973G>A NP_060046.1:p.Gly658Glu
XM_011518848.3:c.2051G>A XP_011517150.1:p.Gly684Glu
XM_011518849.2:c.2051G>A XP_011517151.1:p.Gly684Glu
XM_011518850.2:c.2051G>A XP_011517152.1:p.Gly684Glu
XM_011518854.2:c.2051G>A XP_011517156.1:p.Gly684Glu
XM_011518856.2:c.2051G>A XP_011517158.1:p.Gly684Glu
XM_011518857.2:c.977G>A XP_011517159.1:p.Gly326Glu
XM_017014900.1:c.2051G>A XP_016870389.1:p.Gly684Glu
XM_017014901.2:c.2051G>A XP_016870390.1:p.Gly684Glu
XM_017014902.1:c.2051G>A XP_016870391.1:p.Gly684Glu
XM_017014903.1:c.1973G>A XP_016870392.1:p.Gly658Glu
XM_017014904.1:c.1973G>A XP_016870393.1:p.Gly658Glu
XM_017014905.1:c.2051G>A XP_016870394.1:p.Gly684Glu
XM_017014906.1:c.2051G>A XP_016870395.1:p.Gly684Glu
XM_017014907.1:c.1973G>A XP_016870396.1:p.Gly658Glu
XM_017014908.1:c.1973G>A XP_016870397.1:p.Gly658Glu
XM_017014909.1:c.1595G>A XP_016870398.1:p.Gly532Glu
XM_017014911.2:c.899G>A XP_016870400.1:p.Gly300Glu
XM_017014912.2:c.533G>A XP_016870401.1:p.Gly178Glu
XM_017014914.2:c.1973G>A XP_016870403.1:p.Gly658Glu
XM_017014916.1:c.146G>A XP_016870405.1:p.Gly49Glu
XM_024447608.1:c.1973G>A XP_024303376.1:p.Gly658Glu
XM_024447609.1:c.611G>A XP_024303377.1:p.Gly204Glu
XM_024447610.1:c.533G>A XP_024303378.1:p.Gly178Glu
XR_002956796.1:n.2453G>A
NM_017576.4:c.1973G>A MANE Select NP_060046.1:p.Gly658Glu
NM_001354069.2:c.1973G>A NP_001340998.1:p.Gly658Glu
NM_001354070.2:c.533G>A NP_001340999.1:p.Gly178Glu
NM_001354071.2:c.533G>A NP_001341000.1:p.Gly178Glu
NM_001271927.3:c.1973G>A NP_001258856.1:p.Gly658Glu
NM_001271928.3:c.1973G>A NP_001258857.1:p.Gly658Glu