Canonical Allele Identifier: CA351301994
Community Standard Title: NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240721020T>C , CM000664.2:g.240721020T>C GRCh38
NC_000002.11:g.241660437T>C , CM000664.1:g.241660437T>C GRCh37
NC_000002.10:g.241309110T>C NCBI36
NG_029724.1:g.104188A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4762A>G MANE Select NP_001230937.1:p.Thr1588Ala
ENST00000498729.9:c.4762A>G MANE Select ENSP00000438388.1:p.Thr1588Ala
NM_001244008.1:c.4762A>G NP_001230937.1:p.Thr1588Ala
NM_001320705.1:c.4486A>G NP_001307634.1:p.Thr1496Ala
NM_001320705.2:c.4486A>G NP_001307634.1:p.Thr1496Ala
NM_001330289.1:c.4513A>G NP_001317218.1:p.Thr1505Ala
NM_001330289.2:c.4513A>G NP_001317218.1:p.Thr1505Ala
NM_001330290.1:c.4561A>G NP_001317219.1:p.Thr1521Ala
NM_001330290.2:c.4561A>G NP_001317219.1:p.Thr1521Ala
NM_001379631.1:c.4837A>G NP_001366560.1:p.Thr1613Ala
NM_001379632.1:c.4738A>G NP_001366561.1:p.Thr1580Ala
NM_001379633.1:c.4735A>G NP_001366562.1:p.Thr1579Ala
NM_001379634.1:c.4588A>G NP_001366563.1:p.Thr1530Ala
NM_001379635.1:c.4585A>G NP_001366564.1:p.Thr1529Ala
NM_001379636.1:c.4573A>G NP_001366565.1:p.Thr1525Ala
NM_001379637.1:c.4534A>G NP_001366566.1:p.Thr1512Ala
NM_001379638.1:c.4510A>G NP_001366567.1:p.Thr1504Ala
NM_001379639.1:c.4483A>G NP_001366568.1:p.Thr1495Ala
NM_001379640.1:c.4456A>G NP_001366569.1:p.Thr1486Ala
NM_001379641.1:c.4459A>G NP_001366570.1:p.Thr1487Ala
NM_001379642.1:c.4762A>G NP_001366571.1:p.Thr1588Ala
NM_001379645.1:c.4735A>G NP_001366574.1:p.Thr1579Ala
NM_001379646.1:c.4585A>G NP_001366575.1:p.Thr1529Ala
NM_001379648.1:c.4561A>G NP_001366577.1:p.Thr1521Ala
NM_001379649.1:c.4486A>G NP_001366578.1:p.Thr1496Ala
NM_001379650.1:c.4459A>G NP_001366579.1:p.Thr1487Ala
NM_001379651.1:c.4459A>G NP_001366580.1:p.Thr1487Ala
NM_001379653.1:c.4459A>G NP_001366582.1:p.Thr1487Ala
NM_004321.6:c.4459A>G NP_004312.2:p.Thr1487Ala
NM_004321.7:c.4459A>G NP_004312.2:p.Thr1487Ala
NM_004321.8:c.4459A>G NP_004312.2:p.Thr1487Ala
ENST00000320389.11:c.4459A>G ENSP00000322791.7:p.Thr1487Ala
ENST00000320389.12:c.4483A>G ENSP00000322791.8:p.Thr1495Ala
ENST00000404283.9:c.4786A>G ENSP00000384231.5:p.Thr1596Ala
ENST00000431776.6:c.1582A>G ENSP00000414613.2:p.Thr528Ala
ENST00000460788.5:n.1319A>G
ENST00000465813.1:n.300A>G
ENST00000465813.2:n.322A>G
ENST00000492812.5:n.1234A>G
ENST00000492812.6:n.3345A>G
ENST00000498729.6:c.4762A>G ENSP00000438388.1:p.Thr1588Ala
ENST00000647731.1:c.4486A>G ENSP00000498099.1:p.Thr1496Ala
ENST00000647885.1:c.4573A>G ENSP00000497739.1:p.Thr1525Ala
ENST00000648047.1:c.3721A>G ENSP00000497935.1:p.Thr1241Ala
ENST00000648129.1:c.4735A>G ENSP00000497293.1:p.Thr1579Ala
ENST00000648364.1:c.4486A>G ENSP00000498196.1:p.Thr1496Ala
ENST00000648680.1:c.4513A>G ENSP00000497586.1:p.Thr1505Ala
ENST00000649096.1:c.4459A>G ENSP00000497030.1:p.Thr1487Ala
ENST00000649190.1:n.3756A>G
ENST00000649306.1:c.4561A>G ENSP00000497678.1:p.Thr1521Ala
ENST00000650053.1:c.4459A>G ENSP00000497824.1:p.Thr1487Ala
ENST00000650130.1:c.4735A>G ENSP00000498082.1:p.Thr1579Ala
ENST00000650430.1:n.3834A>G
ENST00000675644.1:c.19A>G ENSP00000502435.1:p.Thr7Ala
ENST00000675932.1:c.19A>G ENSP00000502786.1:p.Thr7Ala
ENST00000676050.1:c.112A>G ENSP00000501938.1:p.Thr38Ala
XM_005247022.1:c.4789A>G XP_005247079.1:p.Thr1597Ala
XM_005247023.1:c.4786A>G XP_005247080.1:p.Thr1596Ala
XM_005247024.1:c.4762A>G XP_005247081.1:p.Thr1588Ala
XM_005247026.1:c.4486A>G XP_005247083.1:p.Thr1496Ala
XM_005247027.1:c.4483A>G XP_005247084.1:p.Thr1495Ala
XM_005247028.1:c.4459A>G XP_005247085.1:p.Thr1487Ala
XM_006712605.1:c.4735A>G XP_006712668.1:p.Thr1579Ala
XM_011511364.1:c.4789A>G XP_011509666.1:p.Thr1597Ala
XM_011511365.1:c.4513A>G XP_011509667.1:p.Thr1505Ala
XM_011511366.1:c.3784A>G XP_011509668.1:p.Thr1262Ala
XM_011511367.1:c.3784A>G XP_011509669.1:p.Thr1262Ala