Canonical Allele Identifier: CA2207261
Community Standard Title: NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719926C>T , CM000664.2:g.240719926C>T GRCh38
NC_000002.11:g.241659343C>T , CM000664.1:g.241659343C>T GRCh37
NC_000002.10:g.241308016C>T NCBI36
NG_029724.1:g.105282G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4869G>A MANE Select NP_001230937.1:p.Arg1623=
ENST00000498729.9:c.4869G>A MANE Select ENSP00000438388.1:p.Arg1623=
NM_001244008.1:c.4869G>A NP_001230937.1:p.Arg1623=
NM_001320705.1:c.4593G>A NP_001307634.1:p.Arg1531=
NM_001320705.2:c.4593G>A NP_001307634.1:p.Arg1531=
NM_001330289.1:c.4620G>A NP_001317218.1:p.Arg1540=
NM_001330289.2:c.4620G>A NP_001317218.1:p.Arg1540=
NM_001330290.1:c.4668G>A NP_001317219.1:p.Arg1556=
NM_001330290.2:c.4668G>A NP_001317219.1:p.Arg1556=
NM_001379631.1:c.4944G>A NP_001366560.1:p.Arg1648=
NM_001379632.1:c.4845G>A NP_001366561.1:p.Arg1615=
NM_001379633.1:c.4842G>A NP_001366562.1:p.Arg1614=
NM_001379634.1:c.4695G>A NP_001366563.1:p.Arg1565=
NM_001379635.1:c.4692G>A NP_001366564.1:p.Arg1564=
NM_001379636.1:c.4680G>A NP_001366565.1:p.Arg1560=
NM_001379637.1:c.4641G>A NP_001366566.1:p.Arg1547=
NM_001379638.1:c.4617G>A NP_001366567.1:p.Arg1539=
NM_001379639.1:c.4590G>A NP_001366568.1:p.Arg1530=
NM_001379640.1:c.4563G>A NP_001366569.1:p.Arg1521=
NM_001379641.1:c.4566G>A NP_001366570.1:p.Arg1522=
NM_001379642.1:c.4869G>A NP_001366571.1:p.Arg1623=
NM_001379645.1:c.4842G>A NP_001366574.1:p.Arg1614=
NM_001379646.1:c.4692G>A NP_001366575.1:p.Arg1564=
NM_001379648.1:c.4668G>A NP_001366577.1:p.Arg1556=
NM_001379649.1:c.4593G>A NP_001366578.1:p.Arg1531=
NM_001379650.1:c.4566G>A NP_001366579.1:p.Arg1522=
NM_001379651.1:c.4566G>A NP_001366580.1:p.Arg1522=
NM_001379653.1:c.4566G>A NP_001366582.1:p.Arg1522=
NM_004321.6:c.4566G>A NP_004312.2:p.Arg1522=
NM_004321.7:c.4566G>A NP_004312.2:p.Arg1522=
NM_004321.8:c.4566G>A NP_004312.2:p.Arg1522=
ENST00000320389.11:c.4566G>A ENSP00000322791.7:p.Arg1522=
ENST00000320389.12:c.4590G>A ENSP00000322791.8:p.Arg1530=
ENST00000404283.9:c.4893G>A ENSP00000384231.5:p.Arg1631=
ENST00000431776.6:c.1689G>A ENSP00000414613.2:p.Arg563=
ENST00000460788.5:n.1426G>A
ENST00000488776.1:n.360G>A
ENST00000492812.5:n.1341G>A
ENST00000492812.6:n.3452G>A
ENST00000498729.6:c.4869G>A ENSP00000438388.1:p.Arg1623=
ENST00000647731.1:c.4593G>A ENSP00000498099.1:p.Arg1531=
ENST00000647885.1:c.4680G>A ENSP00000497739.1:p.Arg1560=
ENST00000648047.1:c.3828G>A ENSP00000497935.1:p.Arg1276=
ENST00000648129.1:c.4842G>A ENSP00000497293.1:p.Arg1614=
ENST00000648364.1:c.4593G>A ENSP00000498196.1:p.Arg1531=
ENST00000648680.1:c.4620G>A ENSP00000497586.1:p.Arg1540=
ENST00000649096.1:c.4566G>A ENSP00000497030.1:p.Arg1522=
ENST00000649190.1:n.3863G>A
ENST00000649306.1:c.4668G>A ENSP00000497678.1:p.Arg1556=
ENST00000650053.1:c.4566G>A ENSP00000497824.1:p.Arg1522=
ENST00000650130.1:c.4842G>A ENSP00000498082.1:p.Arg1614=
ENST00000650430.1:n.3941G>A
ENST00000675644.1:c.291G>A ENSP00000502435.1:n.291G>A
ENST00000675932.1:c.146G>A ENSP00000502786.1:p.Gly49Glu
XM_005247022.1:c.4896G>A XP_005247079.1:p.Arg1632=
XM_005247023.1:c.4893G>A XP_005247080.1:p.Arg1631=
XM_005247024.1:c.4869G>A XP_005247081.1:p.Arg1623=
XM_005247026.1:c.4593G>A XP_005247083.1:p.Arg1531=
XM_005247027.1:c.4590G>A XP_005247084.1:p.Arg1530=
XM_005247028.1:c.4566G>A XP_005247085.1:p.Arg1522=
XM_006712605.1:c.4842G>A XP_006712668.1:p.Arg1614=
XM_011511364.1:c.4896G>A XP_011509666.1:p.Arg1632=
XM_011511365.1:c.4620G>A XP_011509667.1:p.Arg1540=
XM_011511366.1:c.3891G>A XP_011509668.1:p.Arg1297=
XM_011511367.1:c.3891G>A XP_011509669.1:p.Arg1297=