Canonical Allele Identifier: CA2207469
Community Standard Title: NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240725333C>A , CM000664.2:g.240725333C>A GRCh38
NC_000002.11:g.241664750C>A , CM000664.1:g.241664750C>A GRCh37
NC_000002.10:g.241313423C>A NCBI36
NG_029724.1:g.99875G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4194G>T MANE Select NP_001230937.1:p.Lys1398Asn
ENST00000498729.9:c.4194G>T MANE Select ENSP00000438388.1:p.Lys1398Asn
NM_001244008.1:c.4194G>T NP_001230937.1:p.Lys1398Asn
NM_001320705.1:c.3918G>T NP_001307634.1:p.Lys1306Asn
NM_001320705.2:c.3918G>T NP_001307634.1:p.Lys1306Asn
NM_001330289.1:c.3945G>T NP_001317218.1:p.Lys1315Asn
NM_001330289.2:c.3945G>T NP_001317218.1:p.Lys1315Asn
NM_001330290.1:c.3993G>T NP_001317219.1:p.Lys1331Asn
NM_001330290.2:c.3993G>T NP_001317219.1:p.Lys1331Asn
NM_001379631.1:c.4269G>T NP_001366560.1:p.Lys1423Asn
NM_001379632.1:c.4170G>T NP_001366561.1:p.Lys1390Asn
NM_001379633.1:c.4167G>T NP_001366562.1:p.Lys1389Asn
NM_001379634.1:c.4020G>T NP_001366563.1:p.Lys1340Asn
NM_001379635.1:c.4017G>T NP_001366564.1:p.Lys1339Asn
NM_001379636.1:c.4005G>T NP_001366565.1:p.Lys1335Asn
NM_001379637.1:c.3966G>T NP_001366566.1:p.Lys1322Asn
NM_001379638.1:c.3942G>T NP_001366567.1:p.Lys1314Asn
NM_001379639.1:c.3915G>T NP_001366568.1:p.Lys1305Asn
NM_001379640.1:c.3888G>T NP_001366569.1:p.Lys1296Asn
NM_001379641.1:c.3891G>T NP_001366570.1:p.Lys1297Asn
NM_001379642.1:c.4194G>T NP_001366571.1:p.Lys1398Asn
NM_001379645.1:c.4167G>T NP_001366574.1:p.Lys1389Asn
NM_001379646.1:c.4017G>T NP_001366575.1:p.Lys1339Asn
NM_001379648.1:c.3993G>T NP_001366577.1:p.Lys1331Asn
NM_001379649.1:c.3918G>T NP_001366578.1:p.Lys1306Asn
NM_001379650.1:c.3891G>T NP_001366579.1:p.Lys1297Asn
NM_001379651.1:c.3891G>T NP_001366580.1:p.Lys1297Asn
NM_001379653.1:c.3891G>T NP_001366582.1:p.Lys1297Asn
NM_004321.6:c.3891G>T NP_004312.2:p.Lys1297Asn
NM_004321.7:c.3891G>T NP_004312.2:p.Lys1297Asn
NM_004321.8:c.3891G>T NP_004312.2:p.Lys1297Asn
ENST00000320389.11:c.3891G>T ENSP00000322791.7:p.Lys1297Asn
ENST00000320389.12:c.3915G>T ENSP00000322791.8:p.Lys1305Asn
ENST00000404283.7:c.4218G>T ENSP00000384231.3:p.Lys1406Asn
ENST00000404283.9:c.4218G>T ENSP00000384231.5:p.Lys1406Asn
ENST00000431776.5:c.689G>T
ENST00000431776.6:c.1014G>T ENSP00000414613.2:p.Lys338Asn
ENST00000492812.5:n.666G>T
ENST00000492812.6:n.2777G>T
ENST00000498729.6:c.4194G>T ENSP00000438388.1:p.Lys1398Asn
ENST00000647731.1:c.3918G>T ENSP00000498099.1:p.Lys1306Asn
ENST00000647885.1:c.4005G>T ENSP00000497739.1:p.Lys1335Asn
ENST00000648047.1:c.3153G>T ENSP00000497935.1:p.Lys1051Asn
ENST00000648129.1:c.4167G>T ENSP00000497293.1:p.Lys1389Asn
ENST00000648364.1:c.3918G>T ENSP00000498196.1:p.Lys1306Asn
ENST00000648680.1:c.3945G>T ENSP00000497586.1:p.Lys1315Asn
ENST00000649096.1:c.3891G>T ENSP00000497030.1:p.Lys1297Asn
ENST00000649190.1:n.3188G>T
ENST00000649306.1:c.3993G>T ENSP00000497678.1:p.Lys1331Asn
ENST00000650053.1:c.3891G>T ENSP00000497824.1:p.Lys1297Asn
ENST00000650130.1:c.4167G>T ENSP00000498082.1:p.Lys1389Asn
ENST00000650430.1:n.3266G>T
ENST00000674530.1:n.257G>T
XM_005247022.1:c.4221G>T XP_005247079.1:p.Lys1407Asn
XM_005247023.1:c.4218G>T XP_005247080.1:p.Lys1406Asn
XM_005247024.1:c.4194G>T XP_005247081.1:p.Lys1398Asn
XM_005247026.1:c.3918G>T XP_005247083.1:p.Lys1306Asn
XM_005247027.1:c.3915G>T XP_005247084.1:p.Lys1305Asn
XM_005247028.1:c.3891G>T XP_005247085.1:p.Lys1297Asn
XM_006712605.1:c.4167G>T XP_006712668.1:p.Lys1389Asn
XM_011511364.1:c.4221G>T XP_011509666.1:p.Lys1407Asn
XM_011511365.1:c.3945G>T XP_011509667.1:p.Lys1315Asn
XM_011511366.1:c.3216G>T XP_011509668.1:p.Lys1072Asn
XM_011511367.1:c.3216G>T XP_011509669.1:p.Lys1072Asn