Canonical Allele Identifier: CA2207510
Community Standard Title: NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240726903T>G , CM000664.2:g.240726903T>G GRCh38
NC_000002.11:g.241666320T>G , CM000664.1:g.241666320T>G GRCh37
NC_000002.10:g.241314993T>G NCBI36
NG_029724.1:g.98305A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4045A>C MANE Select NP_001230937.1:p.Met1349Leu
ENST00000498729.9:c.4045A>C MANE Select ENSP00000438388.1:p.Met1349Leu
NM_001244008.1:c.4045A>C NP_001230937.1:p.Met1349Leu
NM_001320705.1:c.3769A>C NP_001307634.1:p.Met1257Leu
NM_001320705.2:c.3769A>C NP_001307634.1:p.Met1257Leu
NM_001330289.1:c.3796A>C NP_001317218.1:p.Met1266Leu
NM_001330289.2:c.3796A>C NP_001317218.1:p.Met1266Leu
NM_001330290.1:c.3844A>C NP_001317219.1:p.Met1282Leu
NM_001330290.2:c.3844A>C NP_001317219.1:p.Met1282Leu
NM_001379631.1:c.4120A>C NP_001366560.1:p.Met1374Leu
NM_001379632.1:c.4021A>C NP_001366561.1:p.Met1341Leu
NM_001379633.1:c.4018A>C NP_001366562.1:p.Met1340Leu
NM_001379634.1:c.3871A>C NP_001366563.1:p.Met1291Leu
NM_001379635.1:c.3868A>C NP_001366564.1:p.Met1290Leu
NM_001379636.1:c.3856A>C NP_001366565.1:p.Met1286Leu
NM_001379637.1:c.3817A>C NP_001366566.1:p.Met1273Leu
NM_001379638.1:c.3793A>C NP_001366567.1:p.Met1265Leu
NM_001379639.1:c.3766A>C NP_001366568.1:p.Met1256Leu
NM_001379640.1:c.3739A>C NP_001366569.1:p.Met1247Leu
NM_001379641.1:c.3742A>C NP_001366570.1:p.Met1248Leu
NM_001379642.1:c.4045A>C NP_001366571.1:p.Met1349Leu
NM_001379645.1:c.4018A>C NP_001366574.1:p.Met1340Leu
NM_001379646.1:c.3868A>C NP_001366575.1:p.Met1290Leu
NM_001379648.1:c.3844A>C NP_001366577.1:p.Met1282Leu
NM_001379649.1:c.3769A>C NP_001366578.1:p.Met1257Leu
NM_001379650.1:c.3742A>C NP_001366579.1:p.Met1248Leu
NM_001379651.1:c.3742A>C NP_001366580.1:p.Met1248Leu
NM_001379653.1:c.3742A>C NP_001366582.1:p.Met1248Leu
NM_004321.6:c.3742A>C NP_004312.2:p.Met1248Leu
NM_004321.7:c.3742A>C NP_004312.2:p.Met1248Leu
NM_004321.8:c.3742A>C NP_004312.2:p.Met1248Leu
ENST00000320389.11:c.3742A>C ENSP00000322791.7:p.Met1248Leu
ENST00000320389.12:c.3766A>C ENSP00000322791.8:p.Met1256Leu
ENST00000404283.7:c.4069A>C ENSP00000384231.3:p.Met1357Leu
ENST00000404283.9:c.4069A>C ENSP00000384231.5:p.Met1357Leu
ENST00000431776.5:c.540A>C
ENST00000431776.6:c.865A>C ENSP00000414613.2:p.Met289Leu
ENST00000492812.6:n.1207A>C
ENST00000494452.1:n.518A>C
ENST00000498729.6:c.4045A>C ENSP00000438388.1:p.Met1349Leu
ENST00000647731.1:c.3769A>C ENSP00000498099.1:p.Met1257Leu
ENST00000647885.1:c.3856A>C ENSP00000497739.1:p.Met1286Leu
ENST00000648047.1:c.3004A>C ENSP00000497935.1:p.Met1002Leu
ENST00000648129.1:c.4018A>C ENSP00000497293.1:p.Met1340Leu
ENST00000648364.1:c.3769A>C ENSP00000498196.1:p.Met1257Leu
ENST00000648680.1:c.3796A>C ENSP00000497586.1:p.Met1266Leu
ENST00000649064.1:n.3900A>C
ENST00000649096.1:c.3742A>C ENSP00000497030.1:p.Met1248Leu
ENST00000649190.1:n.3039A>C
ENST00000649306.1:c.3844A>C ENSP00000497678.1:p.Met1282Leu
ENST00000650053.1:c.3742A>C ENSP00000497824.1:p.Met1248Leu
ENST00000650130.1:c.4018A>C ENSP00000498082.1:p.Met1340Leu
ENST00000650430.1:n.3117A>C
ENST00000674530.1:n.38A>C
XM_005247022.1:c.4072A>C XP_005247079.1:p.Met1358Leu
XM_005247023.1:c.4069A>C XP_005247080.1:p.Met1357Leu
XM_005247024.1:c.4045A>C XP_005247081.1:p.Met1349Leu
XM_005247026.1:c.3769A>C XP_005247083.1:p.Met1257Leu
XM_005247027.1:c.3766A>C XP_005247084.1:p.Met1256Leu
XM_005247028.1:c.3742A>C XP_005247085.1:p.Met1248Leu
XM_006712605.1:c.4018A>C XP_006712668.1:p.Met1340Leu
XM_011511364.1:c.4072A>C XP_011509666.1:p.Met1358Leu
XM_011511365.1:c.3796A>C XP_011509667.1:p.Met1266Leu
XM_011511366.1:c.3067A>C XP_011509668.1:p.Met1023Leu
XM_011511367.1:c.3067A>C XP_011509669.1:p.Met1023Leu