Canonical Allele Identifier: CA2207500
Community Standard Title: NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240726837C>T , CM000664.2:g.240726837C>T GRCh38
NC_000002.11:g.241666254C>T , CM000664.1:g.241666254C>T GRCh37
NC_000002.10:g.241314927C>T NCBI36
NG_029724.1:g.98371G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4111G>A MANE Select NP_001230937.1:p.Ala1371Thr
ENST00000498729.9:c.4111G>A MANE Select ENSP00000438388.1:p.Ala1371Thr
NM_001244008.1:c.4111G>A NP_001230937.1:p.Ala1371Thr
NM_001320705.1:c.3835G>A NP_001307634.1:p.Ala1279Thr
NM_001320705.2:c.3835G>A NP_001307634.1:p.Ala1279Thr
NM_001330289.1:c.3862G>A NP_001317218.1:p.Ala1288Thr
NM_001330289.2:c.3862G>A NP_001317218.1:p.Ala1288Thr
NM_001330290.1:c.3910G>A NP_001317219.1:p.Ala1304Thr
NM_001330290.2:c.3910G>A NP_001317219.1:p.Ala1304Thr
NM_001379631.1:c.4186G>A NP_001366560.1:p.Ala1396Thr
NM_001379632.1:c.4087G>A NP_001366561.1:p.Ala1363Thr
NM_001379633.1:c.4084G>A NP_001366562.1:p.Ala1362Thr
NM_001379634.1:c.3937G>A NP_001366563.1:p.Ala1313Thr
NM_001379635.1:c.3934G>A NP_001366564.1:p.Ala1312Thr
NM_001379636.1:c.3922G>A NP_001366565.1:p.Ala1308Thr
NM_001379637.1:c.3883G>A NP_001366566.1:p.Ala1295Thr
NM_001379638.1:c.3859G>A NP_001366567.1:p.Ala1287Thr
NM_001379639.1:c.3832G>A NP_001366568.1:p.Ala1278Thr
NM_001379640.1:c.3805G>A NP_001366569.1:p.Ala1269Thr
NM_001379641.1:c.3808G>A NP_001366570.1:p.Ala1270Thr
NM_001379642.1:c.4111G>A NP_001366571.1:p.Ala1371Thr
NM_001379645.1:c.4084G>A NP_001366574.1:p.Ala1362Thr
NM_001379646.1:c.3934G>A NP_001366575.1:p.Ala1312Thr
NM_001379648.1:c.3910G>A NP_001366577.1:p.Ala1304Thr
NM_001379649.1:c.3835G>A NP_001366578.1:p.Ala1279Thr
NM_001379650.1:c.3808G>A NP_001366579.1:p.Ala1270Thr
NM_001379651.1:c.3808G>A NP_001366580.1:p.Ala1270Thr
NM_001379653.1:c.3808G>A NP_001366582.1:p.Ala1270Thr
NM_004321.6:c.3808G>A NP_004312.2:p.Ala1270Thr
NM_004321.7:c.3808G>A NP_004312.2:p.Ala1270Thr
NM_004321.8:c.3808G>A NP_004312.2:p.Ala1270Thr
ENST00000320389.11:c.3808G>A ENSP00000322791.7:p.Ala1270Thr
ENST00000320389.12:c.3832G>A ENSP00000322791.8:p.Ala1278Thr
ENST00000404283.7:c.4135G>A ENSP00000384231.3:p.Ala1379Thr
ENST00000404283.9:c.4135G>A ENSP00000384231.5:p.Ala1379Thr
ENST00000431776.5:c.606G>A
ENST00000431776.6:c.931G>A ENSP00000414613.2:p.Ala311Thr
ENST00000492812.6:n.1273G>A
ENST00000498729.6:c.4111G>A ENSP00000438388.1:p.Ala1371Thr
ENST00000647731.1:c.3835G>A ENSP00000498099.1:p.Ala1279Thr
ENST00000647885.1:c.3922G>A ENSP00000497739.1:p.Ala1308Thr
ENST00000648047.1:c.3070G>A ENSP00000497935.1:p.Ala1024Thr
ENST00000648129.1:c.4084G>A ENSP00000497293.1:p.Ala1362Thr
ENST00000648364.1:c.3835G>A ENSP00000498196.1:p.Ala1279Thr
ENST00000648680.1:c.3862G>A ENSP00000497586.1:p.Ala1288Thr
ENST00000649064.1:n.3966G>A
ENST00000649096.1:c.3808G>A ENSP00000497030.1:p.Ala1270Thr
ENST00000649190.1:n.3105G>A
ENST00000649306.1:c.3910G>A ENSP00000497678.1:p.Ala1304Thr
ENST00000650053.1:c.3808G>A ENSP00000497824.1:p.Ala1270Thr
ENST00000650130.1:c.4084G>A ENSP00000498082.1:p.Ala1362Thr
ENST00000650430.1:n.3183G>A
ENST00000674530.1:n.104G>A
XM_005247022.1:c.4138G>A XP_005247079.1:p.Ala1380Thr
XM_005247023.1:c.4135G>A XP_005247080.1:p.Ala1379Thr
XM_005247024.1:c.4111G>A XP_005247081.1:p.Ala1371Thr
XM_005247026.1:c.3835G>A XP_005247083.1:p.Ala1279Thr
XM_005247027.1:c.3832G>A XP_005247084.1:p.Ala1278Thr
XM_005247028.1:c.3808G>A XP_005247085.1:p.Ala1270Thr
XM_006712605.1:c.4084G>A XP_006712668.1:p.Ala1362Thr
XM_011511364.1:c.4138G>A XP_011509666.1:p.Ala1380Thr
XM_011511365.1:c.3862G>A XP_011509667.1:p.Ala1288Thr
XM_011511366.1:c.3133G>A XP_011509668.1:p.Ala1045Thr
XM_011511367.1:c.3133G>A XP_011509669.1:p.Ala1045Thr