Canonical Allele Identifier: CA2580068023
Community Standard Title: NM_001244008.2(KIF1A):c.5333+4G>A
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240718046C>T , CM000664.2:g.240718046C>T GRCh38
NC_000002.11:g.241657463C>T , CM000664.1:g.241657463C>T GRCh37
NC_000002.10:g.241306136C>T NCBI36
NG_029724.1:g.107162G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5333+4G>A MANE Select NP_001230937.1:n.5333+4G>A
ENST00000498729.9:c.5333+4G>A MANE Select ENSP00000438388.1:n.5333+4G>A
NM_001244008.1:c.5333+4G>A NP_001230937.1:n.5333+4G>A
NM_001320705.1:c.5057+4G>A NP_001307634.1:n.5057+4G>A
NM_001320705.2:c.5057+4G>A NP_001307634.1:n.5057+4G>A
NM_001330289.1:c.5084+4G>A NP_001317218.1:n.5084+4G>A
NM_001330289.2:c.5084+4G>A NP_001317218.1:n.5084+4G>A
NM_001330290.1:c.5132+4G>A NP_001317219.1:n.5132+4G>A
NM_001330290.2:c.5132+4G>A NP_001317219.1:n.5132+4G>A
NM_001379631.1:c.5408+4G>A NP_001366560.1:n.5408+4G>A
NM_001379632.1:c.5309+4G>A NP_001366561.1:n.5309+4G>A
NM_001379633.1:c.5306+4G>A NP_001366562.1:n.5306+4G>A
NM_001379634.1:c.5159+4G>A NP_001366563.1:n.5159+4G>A
NM_001379635.1:c.5156+4G>A NP_001366564.1:n.5156+4G>A
NM_001379636.1:c.5144+4G>A NP_001366565.1:n.5144+4G>A
NM_001379637.1:c.5105+4G>A NP_001366566.1:n.5105+4G>A
NM_001379638.1:c.5081+4G>A NP_001366567.1:n.5081+4G>A
NM_001379639.1:c.5054+4G>A NP_001366568.1:n.5054+4G>A
NM_001379640.1:c.5027+4G>A NP_001366569.1:n.5027+4G>A
NM_001379641.1:c.4994+4G>A NP_001366570.1:n.4994+4G>A
NM_001379642.1:c.5333+4G>A NP_001366571.1:n.5333+4G>A
NM_001379645.1:c.5306+4G>A NP_001366574.1:n.5306+4G>A
NM_001379646.1:c.5156+4G>A NP_001366575.1:n.5156+4G>A
NM_001379648.1:c.5132+4G>A NP_001366577.1:n.5132+4G>A
NM_001379649.1:c.5057+4G>A NP_001366578.1:n.5057+4G>A
NM_001379650.1:c.5030+4G>A NP_001366579.1:n.5030+4G>A
NM_001379651.1:c.5030+4G>A NP_001366580.1:n.5030+4G>A
NM_001379653.1:c.5030+4G>A NP_001366582.1:n.5030+4G>A
NM_004321.6:c.5030+4G>A NP_004312.2:n.5030+4G>A
NM_004321.7:c.5030+4G>A NP_004312.2:n.5030+4G>A
NM_004321.8:c.5030+4G>A NP_004312.2:n.5030+4G>A
ENST00000320389.11:c.5030+4G>A ENSP00000322791.7:n.5030+4G>A
ENST00000320389.12:c.5054+4G>A ENSP00000322791.8:n.5054+4G>A
ENST00000404283.9:c.5357+4G>A ENSP00000384231.5:n.5357+4G>A
ENST00000431776.6:c.2153+4G>A ENSP00000414613.2:n.2153+4G>A
ENST00000460788.5:n.1890+4G>A
ENST00000492812.5:n.1805+4G>A
ENST00000492812.6:n.3916+4G>A
ENST00000498729.6:c.5333+4G>A ENSP00000438388.1:n.5333+4G>A
ENST00000647731.1:c.5057+4G>A ENSP00000498099.1:n.5057+4G>A
ENST00000647885.1:c.5144+4G>A ENSP00000497739.1:n.5144+4G>A
ENST00000648047.1:c.4292+4G>A ENSP00000497935.1:n.4292+4G>A
ENST00000648129.1:c.5306+4G>A ENSP00000497293.1:n.5306+4G>A
ENST00000648364.1:c.5057+4G>A ENSP00000498196.1:n.5057+4G>A
ENST00000648680.1:c.5084+4G>A ENSP00000497586.1:n.5084+4G>A
ENST00000649096.1:c.5030+4G>A ENSP00000497030.1:n.5030+4G>A
ENST00000649190.1:n.4327+4G>A
ENST00000649306.1:c.5132+4G>A ENSP00000497678.1:n.5132+4G>A
ENST00000650053.1:c.5030+4G>A ENSP00000497824.1:n.5030+4G>A
ENST00000650130.1:c.5306+4G>A ENSP00000498082.1:n.5306+4G>A
ENST00000650430.1:n.4405+4G>A
XM_005247022.1:c.5360+4G>A XP_005247079.1:n.5360+4G>A
XM_005247023.1:c.5357+4G>A XP_005247080.1:n.5357+4G>A
XM_005247024.1:c.5333+4G>A XP_005247081.1:n.5333+4G>A
XM_005247026.1:c.5057+4G>A XP_005247083.1:n.5057+4G>A
XM_005247027.1:c.5054+4G>A XP_005247084.1:n.5054+4G>A
XM_005247028.1:c.5030+4G>A XP_005247085.1:n.5030+4G>A
XM_006712605.1:c.5306+4G>A XP_006712668.1:n.5306+4G>A
XM_011511364.1:c.5360+4G>A XP_011509666.1:n.5360+4G>A
XM_011511365.1:c.5084+4G>A XP_011509667.1:n.5084+4G>A
XM_011511366.1:c.4355+4G>A XP_011509668.1:n.4355+4G>A
XM_011511367.1:c.4355+4G>A XP_011509669.1:n.4355+4G>A