Canonical Allele Identifier: CA351297869
Gene: KIF1A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719008T>G , CM000664.2:g.240719008T>G GRCh38
NC_000002.11:g.241658425T>G , CM000664.1:g.241658425T>G GRCh37
NC_000002.10:g.241307098T>G NCBI36
NG_029724.1:g.106200A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320389.12:c.4933A>C ENSP00000322791.8:p.Lys1645Gln
ENST00000404283.9:c.5236A>C ENSP00000384231.5:p.Lys1746Gln
ENST00000431776.6:c.2032A>C ENSP00000414613.2:p.Lys678Gln
ENST00000492812.6:n.3795A>C
ENST00000498729.9:c.5212A>C MANE Select ENSP00000438388.1:p.Lys1738Gln
ENST00000647731.1:c.4936A>C ENSP00000498099.1:p.Lys1646Gln
ENST00000647885.1:c.5023A>C ENSP00000497739.1:p.Lys1675Gln
ENST00000648047.1:c.4171A>C ENSP00000497935.1:p.Lys1391Gln
ENST00000648129.1:c.5185A>C ENSP00000497293.1:p.Lys1729Gln
ENST00000648364.1:c.4936A>C ENSP00000498196.1:p.Lys1646Gln
ENST00000648680.1:c.4963A>C ENSP00000497586.1:p.Lys1655Gln
ENST00000649096.1:c.4909A>C ENSP00000497030.1:p.Lys1637Gln
ENST00000649190.1:n.4206A>C
ENST00000649306.1:c.5011A>C ENSP00000497678.1:p.Lys1671Gln
ENST00000650053.1:c.4909A>C ENSP00000497824.1:p.Lys1637Gln
ENST00000650130.1:c.5185A>C ENSP00000498082.1:p.Lys1729Gln
ENST00000650430.1:n.4284A>C
ENST00000320389.11:c.4909A>C ENSP00000322791.7:p.Lys1637Gln
ENST00000460788.5:n.1769A>C
ENST00000492812.5:n.1684A>C
ENST00000498729.6:c.5212A>C ENSP00000438388.1:p.Lys1738Gln
NM_001244008.1:c.5212A>C NP_001230937.1:p.Lys1738Gln
NM_004321.6:c.4909A>C NP_004312.2:p.Lys1637Gln
XM_005247022.1:c.5239A>C XP_005247079.1:p.Lys1747Gln
XM_005247023.1:c.5236A>C XP_005247080.1:p.Lys1746Gln
XM_005247024.1:c.5212A>C XP_005247081.1:p.Lys1738Gln
XM_005247026.1:c.4936A>C XP_005247083.1:p.Lys1646Gln
XM_005247027.1:c.4933A>C XP_005247084.1:p.Lys1645Gln
XM_005247028.1:c.4909A>C XP_005247085.1:p.Lys1637Gln
XM_006712605.1:c.5185A>C XP_006712668.1:p.Lys1729Gln
XM_011511364.1:c.5239A>C XP_011509666.1:p.Lys1747Gln
XM_011511365.1:c.4963A>C XP_011509667.1:p.Lys1655Gln
XM_011511366.1:c.4234A>C XP_011509668.1:p.Lys1412Gln
XM_011511367.1:c.4234A>C XP_011509669.1:p.Lys1412Gln
NM_001320705.1:c.4936A>C NP_001307634.1:p.Lys1646Gln
NM_001330289.1:c.4963A>C NP_001317218.1:p.Lys1655Gln
NM_001330290.1:c.5011A>C NP_001317219.1:p.Lys1671Gln
NM_004321.7:c.4909A>C NP_004312.2:p.Lys1637Gln
NM_001320705.2:c.4936A>C NP_001307634.1:p.Lys1646Gln
NM_001330289.2:c.4963A>C NP_001317218.1:p.Lys1655Gln
NM_001330290.2:c.5011A>C NP_001317219.1:p.Lys1671Gln
NM_001244008.2:c.5212A>C MANE Select NP_001230937.1:p.Lys1738Gln
NM_001379631.1:c.5287A>C NP_001366560.1:p.Lys1763Gln
NM_001379632.1:c.5188A>C NP_001366561.1:p.Lys1730Gln
NM_001379633.1:c.5185A>C NP_001366562.1:p.Lys1729Gln
NM_001379634.1:c.5038A>C NP_001366563.1:p.Lys1680Gln
NM_001379635.1:c.5035A>C NP_001366564.1:p.Lys1679Gln
NM_001379636.1:c.5023A>C NP_001366565.1:p.Lys1675Gln
NM_001379637.1:c.4984A>C NP_001366566.1:p.Lys1662Gln
NM_001379638.1:c.4960A>C NP_001366567.1:p.Lys1654Gln
NM_001379639.1:c.4933A>C NP_001366568.1:p.Lys1645Gln
NM_001379640.1:c.4906A>C NP_001366569.1:p.Lys1636Gln
NM_001379641.1:c.4875+34A>C NP_001366570.1:n.4875+34A>C
NM_001379642.1:c.5212A>C NP_001366571.1:p.Lys1738Gln
NM_001379645.1:c.5185A>C NP_001366574.1:p.Lys1729Gln
NM_001379646.1:c.5035A>C NP_001366575.1:p.Lys1679Gln
NM_001379648.1:c.5011A>C NP_001366577.1:p.Lys1671Gln
NM_001379649.1:c.4936A>C NP_001366578.1:p.Lys1646Gln
NM_001379650.1:c.4909A>C NP_001366579.1:p.Lys1637Gln
NM_001379651.1:c.4909A>C NP_001366580.1:p.Lys1637Gln
NM_001379653.1:c.4909A>C NP_001366582.1:p.Lys1637Gln
NM_004321.8:c.4909A>C NP_004312.2:p.Lys1637Gln