Canonical Allele Identifier: CA2207346
Community Standard Title: NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240721856T>C , CM000664.2:g.240721856T>C GRCh38
NC_000002.11:g.241661273T>C , CM000664.1:g.241661273T>C GRCh37
NC_000002.10:g.241309946T>C NCBI36
NG_029724.1:g.103352A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4694A>G MANE Select NP_001230937.1:p.Asn1565Ser
ENST00000498729.9:c.4694A>G MANE Select ENSP00000438388.1:p.Asn1565Ser
NM_001244008.1:c.4694A>G NP_001230937.1:p.Asn1565Ser
NM_001320705.1:c.4418A>G NP_001307634.1:p.Asn1473Ser
NM_001320705.2:c.4418A>G NP_001307634.1:p.Asn1473Ser
NM_001330289.1:c.4445A>G NP_001317218.1:p.Asn1482Ser
NM_001330289.2:c.4445A>G NP_001317218.1:p.Asn1482Ser
NM_001330290.1:c.4493A>G NP_001317219.1:p.Asn1498Ser
NM_001330290.2:c.4493A>G NP_001317219.1:p.Asn1498Ser
NM_001379631.1:c.4769A>G NP_001366560.1:p.Asn1590Ser
NM_001379632.1:c.4670A>G NP_001366561.1:p.Asn1557Ser
NM_001379633.1:c.4667A>G NP_001366562.1:p.Asn1556Ser
NM_001379634.1:c.4520A>G NP_001366563.1:p.Asn1507Ser
NM_001379635.1:c.4517A>G NP_001366564.1:p.Asn1506Ser
NM_001379636.1:c.4505A>G NP_001366565.1:p.Asn1502Ser
NM_001379637.1:c.4466A>G NP_001366566.1:p.Asn1489Ser
NM_001379638.1:c.4442A>G NP_001366567.1:p.Asn1481Ser
NM_001379639.1:c.4415A>G NP_001366568.1:p.Asn1472Ser
NM_001379640.1:c.4388A>G NP_001366569.1:p.Asn1463Ser
NM_001379641.1:c.4391A>G NP_001366570.1:p.Asn1464Ser
NM_001379642.1:c.4694A>G NP_001366571.1:p.Asn1565Ser
NM_001379645.1:c.4667A>G NP_001366574.1:p.Asn1556Ser
NM_001379646.1:c.4517A>G NP_001366575.1:p.Asn1506Ser
NM_001379648.1:c.4493A>G NP_001366577.1:p.Asn1498Ser
NM_001379649.1:c.4418A>G NP_001366578.1:p.Asn1473Ser
NM_001379650.1:c.4391A>G NP_001366579.1:p.Asn1464Ser
NM_001379651.1:c.4391A>G NP_001366580.1:p.Asn1464Ser
NM_001379653.1:c.4391A>G NP_001366582.1:p.Asn1464Ser
NM_004321.6:c.4391A>G NP_004312.2:p.Asn1464Ser
NM_004321.7:c.4391A>G NP_004312.2:p.Asn1464Ser
NM_004321.8:c.4391A>G NP_004312.2:p.Asn1464Ser
ENST00000320389.11:c.4391A>G ENSP00000322791.7:p.Asn1464Ser
ENST00000320389.12:c.4415A>G ENSP00000322791.8:p.Asn1472Ser
ENST00000404283.9:c.4718A>G ENSP00000384231.5:p.Asn1573Ser
ENST00000431776.6:c.1514A>G ENSP00000414613.2:p.Asn505Ser
ENST00000460788.5:n.1251A>G
ENST00000465813.1:n.232A>G
ENST00000465813.2:n.254A>G
ENST00000492812.5:n.1166A>G
ENST00000492812.6:n.3277A>G
ENST00000498729.6:c.4694A>G ENSP00000438388.1:p.Asn1565Ser
ENST00000647731.1:c.4418A>G ENSP00000498099.1:p.Asn1473Ser
ENST00000647885.1:c.4505A>G ENSP00000497739.1:p.Asn1502Ser
ENST00000648047.1:c.3653A>G ENSP00000497935.1:p.Asn1218Ser
ENST00000648129.1:c.4667A>G ENSP00000497293.1:p.Asn1556Ser
ENST00000648364.1:c.4418A>G ENSP00000498196.1:p.Asn1473Ser
ENST00000648680.1:c.4445A>G ENSP00000497586.1:p.Asn1482Ser
ENST00000649096.1:c.4391A>G ENSP00000497030.1:p.Asn1464Ser
ENST00000649190.1:n.3688A>G
ENST00000649306.1:c.4493A>G ENSP00000497678.1:p.Asn1498Ser
ENST00000650053.1:c.4391A>G ENSP00000497824.1:p.Asn1464Ser
ENST00000650130.1:c.4667A>G ENSP00000498082.1:p.Asn1556Ser
ENST00000650430.1:n.3766A>G
ENST00000676050.1:c.29A>G ENSP00000501938.1:p.Asn10Ser
XM_005247022.1:c.4721A>G XP_005247079.1:p.Asn1574Ser
XM_005247023.1:c.4718A>G XP_005247080.1:p.Asn1573Ser
XM_005247024.1:c.4694A>G XP_005247081.1:p.Asn1565Ser
XM_005247026.1:c.4418A>G XP_005247083.1:p.Asn1473Ser
XM_005247027.1:c.4415A>G XP_005247084.1:p.Asn1472Ser
XM_005247028.1:c.4391A>G XP_005247085.1:p.Asn1464Ser
XM_006712605.1:c.4667A>G XP_006712668.1:p.Asn1556Ser
XM_011511364.1:c.4721A>G XP_011509666.1:p.Asn1574Ser
XM_011511365.1:c.4445A>G XP_011509667.1:p.Asn1482Ser
XM_011511366.1:c.3716A>G XP_011509668.1:p.Asn1239Ser
XM_011511367.1:c.3716A>G XP_011509669.1:p.Asn1239Ser