Canonical Allele Identifier: CA2207192
Community Standard Title: NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719193A>G , CM000664.2:g.240719193A>G GRCh38
NC_000002.11:g.241658610A>G , CM000664.1:g.241658610A>G GRCh37
NC_000002.10:g.241307283A>G NCBI36
NG_029724.1:g.106015T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5027T>C MANE Select NP_001230937.1:p.Ile1676Thr
ENST00000498729.9:c.5027T>C MANE Select ENSP00000438388.1:p.Ile1676Thr
NM_001244008.1:c.5027T>C NP_001230937.1:p.Ile1676Thr
NM_001320705.1:c.4751T>C NP_001307634.1:p.Ile1584Thr
NM_001320705.2:c.4751T>C NP_001307634.1:p.Ile1584Thr
NM_001330289.1:c.4778T>C NP_001317218.1:p.Ile1593Thr
NM_001330289.2:c.4778T>C NP_001317218.1:p.Ile1593Thr
NM_001330290.1:c.4826T>C NP_001317219.1:p.Ile1609Thr
NM_001330290.2:c.4826T>C NP_001317219.1:p.Ile1609Thr
NM_001379631.1:c.5102T>C NP_001366560.1:p.Ile1701Thr
NM_001379632.1:c.5003T>C NP_001366561.1:p.Ile1668Thr
NM_001379633.1:c.5000T>C NP_001366562.1:p.Ile1667Thr
NM_001379634.1:c.4853T>C NP_001366563.1:p.Ile1618Thr
NM_001379635.1:c.4850T>C NP_001366564.1:p.Ile1617Thr
NM_001379636.1:c.4838T>C NP_001366565.1:p.Ile1613Thr
NM_001379637.1:c.4799T>C NP_001366566.1:p.Ile1600Thr
NM_001379638.1:c.4775T>C NP_001366567.1:p.Ile1592Thr
NM_001379639.1:c.4748T>C NP_001366568.1:p.Ile1583Thr
NM_001379640.1:c.4721T>C NP_001366569.1:p.Ile1574Thr
NM_001379641.1:c.4724T>C NP_001366570.1:p.Ile1575Thr
NM_001379642.1:c.5027T>C NP_001366571.1:p.Ile1676Thr
NM_001379645.1:c.5000T>C NP_001366574.1:p.Ile1667Thr
NM_001379646.1:c.4850T>C NP_001366575.1:p.Ile1617Thr
NM_001379648.1:c.4826T>C NP_001366577.1:p.Ile1609Thr
NM_001379649.1:c.4751T>C NP_001366578.1:p.Ile1584Thr
NM_001379650.1:c.4724T>C NP_001366579.1:p.Ile1575Thr
NM_001379651.1:c.4724T>C NP_001366580.1:p.Ile1575Thr
NM_001379653.1:c.4724T>C NP_001366582.1:p.Ile1575Thr
NM_004321.6:c.4724T>C NP_004312.2:p.Ile1575Thr
NM_004321.7:c.4724T>C NP_004312.2:p.Ile1575Thr
NM_004321.8:c.4724T>C NP_004312.2:p.Ile1575Thr
ENST00000320389.11:c.4724T>C ENSP00000322791.7:p.Ile1575Thr
ENST00000320389.12:c.4748T>C ENSP00000322791.8:p.Ile1583Thr
ENST00000404283.9:c.5051T>C ENSP00000384231.5:p.Ile1684Thr
ENST00000431776.6:c.1847T>C ENSP00000414613.2:p.Ile616Thr
ENST00000460788.5:n.1584T>C
ENST00000488776.1:n.518T>C
ENST00000492812.5:n.1499T>C
ENST00000492812.6:n.3610T>C
ENST00000498729.6:c.5027T>C ENSP00000438388.1:p.Ile1676Thr
ENST00000647731.1:c.4751T>C ENSP00000498099.1:p.Ile1584Thr
ENST00000647885.1:c.4838T>C ENSP00000497739.1:p.Ile1613Thr
ENST00000648047.1:c.3986T>C ENSP00000497935.1:p.Ile1329Thr
ENST00000648129.1:c.5000T>C ENSP00000497293.1:p.Ile1667Thr
ENST00000648364.1:c.4751T>C ENSP00000498196.1:p.Ile1584Thr
ENST00000648680.1:c.4778T>C ENSP00000497586.1:p.Ile1593Thr
ENST00000649096.1:c.4724T>C ENSP00000497030.1:p.Ile1575Thr
ENST00000649190.1:n.4021T>C
ENST00000649306.1:c.4826T>C ENSP00000497678.1:p.Ile1609Thr
ENST00000650053.1:c.4724T>C ENSP00000497824.1:p.Ile1575Thr
ENST00000650130.1:c.5000T>C ENSP00000498082.1:p.Ile1667Thr
ENST00000650430.1:n.4099T>C
XM_005247022.1:c.5054T>C XP_005247079.1:p.Ile1685Thr
XM_005247023.1:c.5051T>C XP_005247080.1:p.Ile1684Thr
XM_005247024.1:c.5027T>C XP_005247081.1:p.Ile1676Thr
XM_005247026.1:c.4751T>C XP_005247083.1:p.Ile1584Thr
XM_005247027.1:c.4748T>C XP_005247084.1:p.Ile1583Thr
XM_005247028.1:c.4724T>C XP_005247085.1:p.Ile1575Thr
XM_006712605.1:c.5000T>C XP_006712668.1:p.Ile1667Thr
XM_011511364.1:c.5054T>C XP_011509666.1:p.Ile1685Thr
XM_011511365.1:c.4778T>C XP_011509667.1:p.Ile1593Thr
XM_011511366.1:c.4049T>C XP_011509668.1:p.Ile1350Thr
XM_011511367.1:c.4049T>C XP_011509669.1:p.Ile1350Thr