Canonical Allele Identifier: CA432018936
Community Standard Title: NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240725291C>A , CM000664.2:g.240725291C>A GRCh38
NC_000002.11:g.241664708C>A , CM000664.1:g.241664708C>A GRCh37
NC_000002.10:g.241313381C>A NCBI36
NG_029724.1:g.99917G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4236G>T MANE Select NP_001230937.1:p.Gly1412=
ENST00000498729.9:c.4236G>T MANE Select ENSP00000438388.1:p.Gly1412=
NM_001244008.1:c.4236G>T NP_001230937.1:p.Gly1412=
NM_001320705.1:c.3960G>T NP_001307634.1:p.Gly1320=
NM_001320705.2:c.3960G>T NP_001307634.1:p.Gly1320=
NM_001330289.1:c.3987G>T NP_001317218.1:p.Gly1329=
NM_001330289.2:c.3987G>T NP_001317218.1:p.Gly1329=
NM_001330290.1:c.4035G>T NP_001317219.1:p.Gly1345=
NM_001330290.2:c.4035G>T NP_001317219.1:p.Gly1345=
NM_001379631.1:c.4311G>T NP_001366560.1:p.Gly1437=
NM_001379632.1:c.4212G>T NP_001366561.1:p.Gly1404=
NM_001379633.1:c.4209G>T NP_001366562.1:p.Gly1403=
NM_001379634.1:c.4062G>T NP_001366563.1:p.Gly1354=
NM_001379635.1:c.4059G>T NP_001366564.1:p.Gly1353=
NM_001379636.1:c.4047G>T NP_001366565.1:p.Gly1349=
NM_001379637.1:c.4008G>T NP_001366566.1:p.Gly1336=
NM_001379638.1:c.3984G>T NP_001366567.1:p.Gly1328=
NM_001379639.1:c.3957G>T NP_001366568.1:p.Gly1319=
NM_001379640.1:c.3930G>T NP_001366569.1:p.Gly1310=
NM_001379641.1:c.3933G>T NP_001366570.1:p.Gly1311=
NM_001379642.1:c.4236G>T NP_001366571.1:p.Gly1412=
NM_001379645.1:c.4209G>T NP_001366574.1:p.Gly1403=
NM_001379646.1:c.4059G>T NP_001366575.1:p.Gly1353=
NM_001379648.1:c.4035G>T NP_001366577.1:p.Gly1345=
NM_001379649.1:c.3960G>T NP_001366578.1:p.Gly1320=
NM_001379650.1:c.3933G>T NP_001366579.1:p.Gly1311=
NM_001379651.1:c.3933G>T NP_001366580.1:p.Gly1311=
NM_001379653.1:c.3933G>T NP_001366582.1:p.Gly1311=
NM_004321.6:c.3933G>T NP_004312.2:p.Gly1311=
NM_004321.7:c.3933G>T NP_004312.2:p.Gly1311=
NM_004321.8:c.3933G>T NP_004312.2:p.Gly1311=
ENST00000320389.11:c.3933G>T ENSP00000322791.7:p.Gly1311=
ENST00000320389.12:c.3957G>T ENSP00000322791.8:p.Gly1319=
ENST00000404283.7:c.4260G>T ENSP00000384231.3:p.Gly1420=
ENST00000404283.9:c.4260G>T ENSP00000384231.5:p.Gly1420=
ENST00000431776.5:c.731G>T
ENST00000431776.6:c.1056G>T ENSP00000414613.2:p.Gly352=
ENST00000492812.5:n.708G>T
ENST00000492812.6:n.2819G>T
ENST00000498729.6:c.4236G>T ENSP00000438388.1:p.Gly1412=
ENST00000647731.1:c.3960G>T ENSP00000498099.1:p.Gly1320=
ENST00000647885.1:c.4047G>T ENSP00000497739.1:p.Gly1349=
ENST00000648047.1:c.3195G>T ENSP00000497935.1:p.Gly1065=
ENST00000648129.1:c.4209G>T ENSP00000497293.1:p.Gly1403=
ENST00000648364.1:c.3960G>T ENSP00000498196.1:p.Gly1320=
ENST00000648680.1:c.3987G>T ENSP00000497586.1:p.Gly1329=
ENST00000649096.1:c.3933G>T ENSP00000497030.1:p.Gly1311=
ENST00000649190.1:n.3230G>T
ENST00000649306.1:c.4035G>T ENSP00000497678.1:p.Gly1345=
ENST00000650053.1:c.3933G>T ENSP00000497824.1:p.Gly1311=
ENST00000650130.1:c.4209G>T ENSP00000498082.1:p.Gly1403=
ENST00000650430.1:n.3308G>T
ENST00000674530.1:n.299G>T
XM_005247022.1:c.4263G>T XP_005247079.1:p.Gly1421=
XM_005247023.1:c.4260G>T XP_005247080.1:p.Gly1420=
XM_005247024.1:c.4236G>T XP_005247081.1:p.Gly1412=
XM_005247026.1:c.3960G>T XP_005247083.1:p.Gly1320=
XM_005247027.1:c.3957G>T XP_005247084.1:p.Gly1319=
XM_005247028.1:c.3933G>T XP_005247085.1:p.Gly1311=
XM_006712605.1:c.4209G>T XP_006712668.1:p.Gly1403=
XM_011511364.1:c.4263G>T XP_011509666.1:p.Gly1421=
XM_011511365.1:c.3987G>T XP_011509667.1:p.Gly1329=
XM_011511366.1:c.3258G>T XP_011509668.1:p.Gly1086=
XM_011511367.1:c.3258G>T XP_011509669.1:p.Gly1086=