Canonical Allele Identifier: CA351300460
Gene: KIF1A HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719840C>G , CM000664.2:g.240719840C>G GRCh38
NC_000002.11:g.241659257C>G , CM000664.1:g.241659257C>G GRCh37
NC_000002.10:g.241307930C>G NCBI36
NG_029724.1:g.105368G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320389.12:c.4676G>C ENSP00000322791.8:p.Arg1559Pro
ENST00000404283.9:c.4979G>C ENSP00000384231.5:p.Arg1660Pro
ENST00000431776.6:c.1775G>C ENSP00000414613.2:p.Arg592Pro
ENST00000492812.6:n.3538G>C
ENST00000498729.9:c.4955G>C MANE Select ENSP00000438388.1:p.Arg1652Pro
ENST00000647731.1:c.4679G>C ENSP00000498099.1:p.Arg1560Pro
ENST00000647885.1:c.4766G>C ENSP00000497739.1:p.Arg1589Pro
ENST00000648047.1:c.3914G>C ENSP00000497935.1:p.Arg1305Pro
ENST00000648129.1:c.4928G>C ENSP00000497293.1:p.Arg1643Pro
ENST00000648364.1:c.4679G>C ENSP00000498196.1:p.Arg1560Pro
ENST00000648680.1:c.4706G>C ENSP00000497586.1:p.Arg1569Pro
ENST00000649096.1:c.4652G>C ENSP00000497030.1:p.Arg1551Pro
ENST00000649190.1:n.3949G>C
ENST00000649306.1:c.4754G>C ENSP00000497678.1:p.Arg1585Pro
ENST00000650053.1:c.4652G>C ENSP00000497824.1:p.Arg1551Pro
ENST00000650130.1:c.4928G>C ENSP00000498082.1:p.Arg1643Pro
ENST00000650430.1:n.4027G>C
ENST00000675644.1:c.377G>C ENSP00000502435.1:n.377G>C
ENST00000675932.1:c.232G>C ENSP00000502786.1:p.Gly78Arg
ENST00000320389.11:c.4652G>C ENSP00000322791.7:p.Arg1551Pro
ENST00000460788.5:n.1512G>C
ENST00000488776.1:n.446G>C
ENST00000492812.5:n.1427G>C
ENST00000498729.6:c.4955G>C ENSP00000438388.1:p.Arg1652Pro
NM_001244008.1:c.4955G>C NP_001230937.1:p.Arg1652Pro
NM_004321.6:c.4652G>C NP_004312.2:p.Arg1551Pro
XM_005247022.1:c.4982G>C XP_005247079.1:p.Arg1661Pro
XM_005247023.1:c.4979G>C XP_005247080.1:p.Arg1660Pro
XM_005247024.1:c.4955G>C XP_005247081.1:p.Arg1652Pro
XM_005247026.1:c.4679G>C XP_005247083.1:p.Arg1560Pro
XM_005247027.1:c.4676G>C XP_005247084.1:p.Arg1559Pro
XM_005247028.1:c.4652G>C XP_005247085.1:p.Arg1551Pro
XM_006712605.1:c.4928G>C XP_006712668.1:p.Arg1643Pro
XM_011511364.1:c.4982G>C XP_011509666.1:p.Arg1661Pro
XM_011511365.1:c.4706G>C XP_011509667.1:p.Arg1569Pro
XM_011511366.1:c.3977G>C XP_011509668.1:p.Arg1326Pro
XM_011511367.1:c.3977G>C XP_011509669.1:p.Arg1326Pro
NM_001320705.1:c.4679G>C NP_001307634.1:p.Arg1560Pro
NM_001330289.1:c.4706G>C NP_001317218.1:p.Arg1569Pro
NM_001330290.1:c.4754G>C NP_001317219.1:p.Arg1585Pro
NM_004321.7:c.4652G>C NP_004312.2:p.Arg1551Pro
NM_001320705.2:c.4679G>C NP_001307634.1:p.Arg1560Pro
NM_001330289.2:c.4706G>C NP_001317218.1:p.Arg1569Pro
NM_001330290.2:c.4754G>C NP_001317219.1:p.Arg1585Pro
NM_001244008.2:c.4955G>C MANE Select NP_001230937.1:p.Arg1652Pro
NM_001379631.1:c.5030G>C NP_001366560.1:p.Arg1677Pro
NM_001379632.1:c.4931G>C NP_001366561.1:p.Arg1644Pro
NM_001379633.1:c.4928G>C NP_001366562.1:p.Arg1643Pro
NM_001379634.1:c.4781G>C NP_001366563.1:p.Arg1594Pro
NM_001379635.1:c.4778G>C NP_001366564.1:p.Arg1593Pro
NM_001379636.1:c.4766G>C NP_001366565.1:p.Arg1589Pro
NM_001379637.1:c.4727G>C NP_001366566.1:p.Arg1576Pro
NM_001379638.1:c.4703G>C NP_001366567.1:p.Arg1568Pro
NM_001379639.1:c.4676G>C NP_001366568.1:p.Arg1559Pro
NM_001379640.1:c.4649G>C NP_001366569.1:p.Arg1550Pro
NM_001379641.1:c.4652G>C NP_001366570.1:p.Arg1551Pro
NM_001379642.1:c.4955G>C NP_001366571.1:p.Arg1652Pro
NM_001379645.1:c.4928G>C NP_001366574.1:p.Arg1643Pro
NM_001379646.1:c.4778G>C NP_001366575.1:p.Arg1593Pro
NM_001379648.1:c.4754G>C NP_001366577.1:p.Arg1585Pro
NM_001379649.1:c.4679G>C NP_001366578.1:p.Arg1560Pro
NM_001379650.1:c.4652G>C NP_001366579.1:p.Arg1551Pro
NM_001379651.1:c.4652G>C NP_001366580.1:p.Arg1551Pro
NM_001379653.1:c.4652G>C NP_001366582.1:p.Arg1551Pro
NM_004321.8:c.4652G>C NP_004312.2:p.Arg1551Pro