Canonical Allele Identifier: CA351298247
Community Standard Title: NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719091C>G , CM000664.2:g.240719091C>G GRCh38
NC_000002.11:g.241658508C>G , CM000664.1:g.241658508C>G GRCh37
NC_000002.10:g.241307181C>G NCBI36
NG_029724.1:g.106117G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5129G>C MANE Select NP_001230937.1:p.Ser1710Thr
ENST00000498729.9:c.5129G>C MANE Select ENSP00000438388.1:p.Ser1710Thr
NM_001244008.1:c.5129G>C NP_001230937.1:p.Ser1710Thr
NM_001320705.1:c.4853G>C NP_001307634.1:p.Ser1618Thr
NM_001320705.2:c.4853G>C NP_001307634.1:p.Ser1618Thr
NM_001330289.1:c.4880G>C NP_001317218.1:p.Ser1627Thr
NM_001330289.2:c.4880G>C NP_001317218.1:p.Ser1627Thr
NM_001330290.1:c.4928G>C NP_001317219.1:p.Ser1643Thr
NM_001330290.2:c.4928G>C NP_001317219.1:p.Ser1643Thr
NM_001379631.1:c.5204G>C NP_001366560.1:p.Ser1735Thr
NM_001379632.1:c.5105G>C NP_001366561.1:p.Ser1702Thr
NM_001379633.1:c.5102G>C NP_001366562.1:p.Ser1701Thr
NM_001379634.1:c.4955G>C NP_001366563.1:p.Ser1652Thr
NM_001379635.1:c.4952G>C NP_001366564.1:p.Ser1651Thr
NM_001379636.1:c.4940G>C NP_001366565.1:p.Ser1647Thr
NM_001379637.1:c.4901G>C NP_001366566.1:p.Ser1634Thr
NM_001379638.1:c.4877G>C NP_001366567.1:p.Ser1626Thr
NM_001379639.1:c.4850G>C NP_001366568.1:p.Ser1617Thr
NM_001379640.1:c.4823G>C NP_001366569.1:p.Ser1608Thr
NM_001379641.1:c.4826G>C NP_001366570.1:p.Ser1609Thr
NM_001379642.1:c.5129G>C NP_001366571.1:p.Ser1710Thr
NM_001379645.1:c.5102G>C NP_001366574.1:p.Ser1701Thr
NM_001379646.1:c.4952G>C NP_001366575.1:p.Ser1651Thr
NM_001379648.1:c.4928G>C NP_001366577.1:p.Ser1643Thr
NM_001379649.1:c.4853G>C NP_001366578.1:p.Ser1618Thr
NM_001379650.1:c.4826G>C NP_001366579.1:p.Ser1609Thr
NM_001379651.1:c.4826G>C NP_001366580.1:p.Ser1609Thr
NM_001379653.1:c.4826G>C NP_001366582.1:p.Ser1609Thr
NM_004321.6:c.4826G>C NP_004312.2:p.Ser1609Thr
NM_004321.7:c.4826G>C NP_004312.2:p.Ser1609Thr
NM_004321.8:c.4826G>C NP_004312.2:p.Ser1609Thr
ENST00000320389.11:c.4826G>C ENSP00000322791.7:p.Ser1609Thr
ENST00000320389.12:c.4850G>C ENSP00000322791.8:p.Ser1617Thr
ENST00000404283.9:c.5153G>C ENSP00000384231.5:p.Ser1718Thr
ENST00000431776.6:c.1949G>C ENSP00000414613.2:p.Ser650Thr
ENST00000460788.5:n.1686G>C
ENST00000492812.5:n.1601G>C
ENST00000492812.6:n.3712G>C
ENST00000498729.6:c.5129G>C ENSP00000438388.1:p.Ser1710Thr
ENST00000647731.1:c.4853G>C ENSP00000498099.1:p.Ser1618Thr
ENST00000647885.1:c.4940G>C ENSP00000497739.1:p.Ser1647Thr
ENST00000648047.1:c.4088G>C ENSP00000497935.1:p.Ser1363Thr
ENST00000648129.1:c.5102G>C ENSP00000497293.1:p.Ser1701Thr
ENST00000648364.1:c.4853G>C ENSP00000498196.1:p.Ser1618Thr
ENST00000648680.1:c.4880G>C ENSP00000497586.1:p.Ser1627Thr
ENST00000649096.1:c.4826G>C ENSP00000497030.1:p.Ser1609Thr
ENST00000649190.1:n.4123G>C
ENST00000649306.1:c.4928G>C ENSP00000497678.1:p.Ser1643Thr
ENST00000650053.1:c.4826G>C ENSP00000497824.1:p.Ser1609Thr
ENST00000650130.1:c.5102G>C ENSP00000498082.1:p.Ser1701Thr
ENST00000650430.1:n.4201G>C
XM_005247022.1:c.5156G>C XP_005247079.1:p.Ser1719Thr
XM_005247023.1:c.5153G>C XP_005247080.1:p.Ser1718Thr
XM_005247024.1:c.5129G>C XP_005247081.1:p.Ser1710Thr
XM_005247026.1:c.4853G>C XP_005247083.1:p.Ser1618Thr
XM_005247027.1:c.4850G>C XP_005247084.1:p.Ser1617Thr
XM_005247028.1:c.4826G>C XP_005247085.1:p.Ser1609Thr
XM_006712605.1:c.5102G>C XP_006712668.1:p.Ser1701Thr
XM_011511364.1:c.5156G>C XP_011509666.1:p.Ser1719Thr
XM_011511365.1:c.4880G>C XP_011509667.1:p.Ser1627Thr
XM_011511366.1:c.4151G>C XP_011509668.1:p.Ser1384Thr
XM_011511367.1:c.4151G>C XP_011509669.1:p.Ser1384Thr