Canonical Allele Identifier: CA351300366
Community Standard Title: NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719828G>C , CM000664.2:g.240719828G>C GRCh38
NC_000002.11:g.241659245G>C , CM000664.1:g.241659245G>C GRCh37
NC_000002.10:g.241307918G>C NCBI36
NG_029724.1:g.105380C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4967C>G MANE Select NP_001230937.1:p.Thr1656Arg
ENST00000498729.9:c.4967C>G MANE Select ENSP00000438388.1:p.Thr1656Arg
NM_001244008.1:c.4967C>G NP_001230937.1:p.Thr1656Arg
NM_001320705.1:c.4691C>G NP_001307634.1:p.Thr1564Arg
NM_001320705.2:c.4691C>G NP_001307634.1:p.Thr1564Arg
NM_001330289.1:c.4718C>G NP_001317218.1:p.Thr1573Arg
NM_001330289.2:c.4718C>G NP_001317218.1:p.Thr1573Arg
NM_001330290.1:c.4766C>G NP_001317219.1:p.Thr1589Arg
NM_001330290.2:c.4766C>G NP_001317219.1:p.Thr1589Arg
NM_001379631.1:c.5042C>G NP_001366560.1:p.Thr1681Arg
NM_001379632.1:c.4943C>G NP_001366561.1:p.Thr1648Arg
NM_001379633.1:c.4940C>G NP_001366562.1:p.Thr1647Arg
NM_001379634.1:c.4793C>G NP_001366563.1:p.Thr1598Arg
NM_001379635.1:c.4790C>G NP_001366564.1:p.Thr1597Arg
NM_001379636.1:c.4778C>G NP_001366565.1:p.Thr1593Arg
NM_001379637.1:c.4739C>G NP_001366566.1:p.Thr1580Arg
NM_001379638.1:c.4715C>G NP_001366567.1:p.Thr1572Arg
NM_001379639.1:c.4688C>G NP_001366568.1:p.Thr1563Arg
NM_001379640.1:c.4661C>G NP_001366569.1:p.Thr1554Arg
NM_001379641.1:c.4664C>G NP_001366570.1:p.Thr1555Arg
NM_001379642.1:c.4967C>G NP_001366571.1:p.Thr1656Arg
NM_001379645.1:c.4940C>G NP_001366574.1:p.Thr1647Arg
NM_001379646.1:c.4790C>G NP_001366575.1:p.Thr1597Arg
NM_001379648.1:c.4766C>G NP_001366577.1:p.Thr1589Arg
NM_001379649.1:c.4691C>G NP_001366578.1:p.Thr1564Arg
NM_001379650.1:c.4664C>G NP_001366579.1:p.Thr1555Arg
NM_001379651.1:c.4664C>G NP_001366580.1:p.Thr1555Arg
NM_001379653.1:c.4664C>G NP_001366582.1:p.Thr1555Arg
NM_004321.6:c.4664C>G NP_004312.2:p.Thr1555Arg
NM_004321.7:c.4664C>G NP_004312.2:p.Thr1555Arg
NM_004321.8:c.4664C>G NP_004312.2:p.Thr1555Arg
ENST00000320389.11:c.4664C>G ENSP00000322791.7:p.Thr1555Arg
ENST00000320389.12:c.4688C>G ENSP00000322791.8:p.Thr1563Arg
ENST00000404283.9:c.4991C>G ENSP00000384231.5:p.Thr1664Arg
ENST00000431776.6:c.1787C>G ENSP00000414613.2:p.Thr596Arg
ENST00000460788.5:n.1524C>G
ENST00000488776.1:n.458C>G
ENST00000492812.5:n.1439C>G
ENST00000492812.6:n.3550C>G
ENST00000498729.6:c.4967C>G ENSP00000438388.1:p.Thr1656Arg
ENST00000647731.1:c.4691C>G ENSP00000498099.1:p.Thr1564Arg
ENST00000647885.1:c.4778C>G ENSP00000497739.1:p.Thr1593Arg
ENST00000648047.1:c.3926C>G ENSP00000497935.1:p.Thr1309Arg
ENST00000648129.1:c.4940C>G ENSP00000497293.1:p.Thr1647Arg
ENST00000648364.1:c.4691C>G ENSP00000498196.1:p.Thr1564Arg
ENST00000648680.1:c.4718C>G ENSP00000497586.1:p.Thr1573Arg
ENST00000649096.1:c.4664C>G ENSP00000497030.1:p.Thr1555Arg
ENST00000649190.1:n.3961C>G
ENST00000649306.1:c.4766C>G ENSP00000497678.1:p.Thr1589Arg
ENST00000650053.1:c.4664C>G ENSP00000497824.1:p.Thr1555Arg
ENST00000650130.1:c.4940C>G ENSP00000498082.1:p.Thr1647Arg
ENST00000650430.1:n.4039C>G
ENST00000675644.1:c.389C>G ENSP00000502435.1:n.389C>G
ENST00000675932.1:c.244C>G ENSP00000502786.1:p.Gln82Glu
XM_005247022.1:c.4994C>G XP_005247079.1:p.Thr1665Arg
XM_005247023.1:c.4991C>G XP_005247080.1:p.Thr1664Arg
XM_005247024.1:c.4967C>G XP_005247081.1:p.Thr1656Arg
XM_005247026.1:c.4691C>G XP_005247083.1:p.Thr1564Arg
XM_005247027.1:c.4688C>G XP_005247084.1:p.Thr1563Arg
XM_005247028.1:c.4664C>G XP_005247085.1:p.Thr1555Arg
XM_006712605.1:c.4940C>G XP_006712668.1:p.Thr1647Arg
XM_011511364.1:c.4994C>G XP_011509666.1:p.Thr1665Arg
XM_011511365.1:c.4718C>G XP_011509667.1:p.Thr1573Arg
XM_011511366.1:c.3989C>G XP_011509668.1:p.Thr1330Arg
XM_011511367.1:c.3989C>G XP_011509669.1:p.Thr1330Arg