Canonical Allele Identifier: CA2207460
Community Standard Title: NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240725298C>A , CM000664.2:g.240725298C>A GRCh38
NC_000002.11:g.241664715C>A , CM000664.1:g.241664715C>A GRCh37
NC_000002.10:g.241313388C>A NCBI36
NG_029724.1:g.99910G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4229G>T MANE Select NP_001230937.1:p.Gly1410Val
ENST00000498729.9:c.4229G>T MANE Select ENSP00000438388.1:p.Gly1410Val
NM_001244008.1:c.4229G>T NP_001230937.1:p.Gly1410Val
NM_001320705.1:c.3953G>T NP_001307634.1:p.Gly1318Val
NM_001320705.2:c.3953G>T NP_001307634.1:p.Gly1318Val
NM_001330289.1:c.3980G>T NP_001317218.1:p.Gly1327Val
NM_001330289.2:c.3980G>T NP_001317218.1:p.Gly1327Val
NM_001330290.1:c.4028G>T NP_001317219.1:p.Gly1343Val
NM_001330290.2:c.4028G>T NP_001317219.1:p.Gly1343Val
NM_001379631.1:c.4304G>T NP_001366560.1:p.Gly1435Val
NM_001379632.1:c.4205G>T NP_001366561.1:p.Gly1402Val
NM_001379633.1:c.4202G>T NP_001366562.1:p.Gly1401Val
NM_001379634.1:c.4055G>T NP_001366563.1:p.Gly1352Val
NM_001379635.1:c.4052G>T NP_001366564.1:p.Gly1351Val
NM_001379636.1:c.4040G>T NP_001366565.1:p.Gly1347Val
NM_001379637.1:c.4001G>T NP_001366566.1:p.Gly1334Val
NM_001379638.1:c.3977G>T NP_001366567.1:p.Gly1326Val
NM_001379639.1:c.3950G>T NP_001366568.1:p.Gly1317Val
NM_001379640.1:c.3923G>T NP_001366569.1:p.Gly1308Val
NM_001379641.1:c.3926G>T NP_001366570.1:p.Gly1309Val
NM_001379642.1:c.4229G>T NP_001366571.1:p.Gly1410Val
NM_001379645.1:c.4202G>T NP_001366574.1:p.Gly1401Val
NM_001379646.1:c.4052G>T NP_001366575.1:p.Gly1351Val
NM_001379648.1:c.4028G>T NP_001366577.1:p.Gly1343Val
NM_001379649.1:c.3953G>T NP_001366578.1:p.Gly1318Val
NM_001379650.1:c.3926G>T NP_001366579.1:p.Gly1309Val
NM_001379651.1:c.3926G>T NP_001366580.1:p.Gly1309Val
NM_001379653.1:c.3926G>T NP_001366582.1:p.Gly1309Val
NM_004321.6:c.3926G>T NP_004312.2:p.Gly1309Val
NM_004321.7:c.3926G>T NP_004312.2:p.Gly1309Val
NM_004321.8:c.3926G>T NP_004312.2:p.Gly1309Val
ENST00000320389.11:c.3926G>T ENSP00000322791.7:p.Gly1309Val
ENST00000320389.12:c.3950G>T ENSP00000322791.8:p.Gly1317Val
ENST00000404283.7:c.4253G>T ENSP00000384231.3:p.Gly1418Val
ENST00000404283.9:c.4253G>T ENSP00000384231.5:p.Gly1418Val
ENST00000431776.5:c.724G>T
ENST00000431776.6:c.1049G>T ENSP00000414613.2:p.Gly350Val
ENST00000492812.5:n.701G>T
ENST00000492812.6:n.2812G>T
ENST00000498729.6:c.4229G>T ENSP00000438388.1:p.Gly1410Val
ENST00000647731.1:c.3953G>T ENSP00000498099.1:p.Gly1318Val
ENST00000647885.1:c.4040G>T ENSP00000497739.1:p.Gly1347Val
ENST00000648047.1:c.3188G>T ENSP00000497935.1:p.Gly1063Val
ENST00000648129.1:c.4202G>T ENSP00000497293.1:p.Gly1401Val
ENST00000648364.1:c.3953G>T ENSP00000498196.1:p.Gly1318Val
ENST00000648680.1:c.3980G>T ENSP00000497586.1:p.Gly1327Val
ENST00000649096.1:c.3926G>T ENSP00000497030.1:p.Gly1309Val
ENST00000649190.1:n.3223G>T
ENST00000649306.1:c.4028G>T ENSP00000497678.1:p.Gly1343Val
ENST00000650053.1:c.3926G>T ENSP00000497824.1:p.Gly1309Val
ENST00000650130.1:c.4202G>T ENSP00000498082.1:p.Gly1401Val
ENST00000650430.1:n.3301G>T
ENST00000674530.1:n.292G>T
XM_005247022.1:c.4256G>T XP_005247079.1:p.Gly1419Val
XM_005247023.1:c.4253G>T XP_005247080.1:p.Gly1418Val
XM_005247024.1:c.4229G>T XP_005247081.1:p.Gly1410Val
XM_005247026.1:c.3953G>T XP_005247083.1:p.Gly1318Val
XM_005247027.1:c.3950G>T XP_005247084.1:p.Gly1317Val
XM_005247028.1:c.3926G>T XP_005247085.1:p.Gly1309Val
XM_006712605.1:c.4202G>T XP_006712668.1:p.Gly1401Val
XM_011511364.1:c.4256G>T XP_011509666.1:p.Gly1419Val
XM_011511365.1:c.3980G>T XP_011509667.1:p.Gly1327Val
XM_011511366.1:c.3251G>T XP_011509668.1:p.Gly1084Val
XM_011511367.1:c.3251G>T XP_011509669.1:p.Gly1084Val