Canonical Allele Identifier: CA2207478
Community Standard Title: NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240725397T>C , CM000664.2:g.240725397T>C GRCh38
NC_000002.11:g.241664814T>C , CM000664.1:g.241664814T>C GRCh37
NC_000002.10:g.241313487T>C NCBI36
NG_029724.1:g.99811A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4130A>G MANE Select NP_001230937.1:p.Asn1377Ser
ENST00000498729.9:c.4130A>G MANE Select ENSP00000438388.1:p.Asn1377Ser
NM_001244008.1:c.4130A>G NP_001230937.1:p.Asn1377Ser
NM_001320705.1:c.3854A>G NP_001307634.1:p.Asn1285Ser
NM_001320705.2:c.3854A>G NP_001307634.1:p.Asn1285Ser
NM_001330289.1:c.3881A>G NP_001317218.1:p.Asn1294Ser
NM_001330289.2:c.3881A>G NP_001317218.1:p.Asn1294Ser
NM_001330290.1:c.3929A>G NP_001317219.1:p.Asn1310Ser
NM_001330290.2:c.3929A>G NP_001317219.1:p.Asn1310Ser
NM_001379631.1:c.4205A>G NP_001366560.1:p.Asn1402Ser
NM_001379632.1:c.4106A>G NP_001366561.1:p.Asn1369Ser
NM_001379633.1:c.4103A>G NP_001366562.1:p.Asn1368Ser
NM_001379634.1:c.3956A>G NP_001366563.1:p.Asn1319Ser
NM_001379635.1:c.3953A>G NP_001366564.1:p.Asn1318Ser
NM_001379636.1:c.3941A>G NP_001366565.1:p.Asn1314Ser
NM_001379637.1:c.3902A>G NP_001366566.1:p.Asn1301Ser
NM_001379638.1:c.3878A>G NP_001366567.1:p.Asn1293Ser
NM_001379639.1:c.3851A>G NP_001366568.1:p.Asn1284Ser
NM_001379640.1:c.3824A>G NP_001366569.1:p.Asn1275Ser
NM_001379641.1:c.3827A>G NP_001366570.1:p.Asn1276Ser
NM_001379642.1:c.4130A>G NP_001366571.1:p.Asn1377Ser
NM_001379645.1:c.4103A>G NP_001366574.1:p.Asn1368Ser
NM_001379646.1:c.3953A>G NP_001366575.1:p.Asn1318Ser
NM_001379648.1:c.3929A>G NP_001366577.1:p.Asn1310Ser
NM_001379649.1:c.3854A>G NP_001366578.1:p.Asn1285Ser
NM_001379650.1:c.3827A>G NP_001366579.1:p.Asn1276Ser
NM_001379651.1:c.3827A>G NP_001366580.1:p.Asn1276Ser
NM_001379653.1:c.3827A>G NP_001366582.1:p.Asn1276Ser
NM_004321.6:c.3827A>G NP_004312.2:p.Asn1276Ser
NM_004321.7:c.3827A>G NP_004312.2:p.Asn1276Ser
NM_004321.8:c.3827A>G NP_004312.2:p.Asn1276Ser
ENST00000320389.11:c.3827A>G ENSP00000322791.7:p.Asn1276Ser
ENST00000320389.12:c.3851A>G ENSP00000322791.8:p.Asn1284Ser
ENST00000404283.7:c.4154A>G ENSP00000384231.3:p.Asn1385Ser
ENST00000404283.9:c.4154A>G ENSP00000384231.5:p.Asn1385Ser
ENST00000431776.5:c.625A>G
ENST00000431776.6:c.950A>G ENSP00000414613.2:p.Asn317Ser
ENST00000492812.5:n.602A>G
ENST00000492812.6:n.2713A>G
ENST00000498729.6:c.4130A>G ENSP00000438388.1:p.Asn1377Ser
ENST00000647731.1:c.3854A>G ENSP00000498099.1:p.Asn1285Ser
ENST00000647885.1:c.3941A>G ENSP00000497739.1:p.Asn1314Ser
ENST00000648047.1:c.3089A>G ENSP00000497935.1:p.Asn1030Ser
ENST00000648129.1:c.4103A>G ENSP00000497293.1:p.Asn1368Ser
ENST00000648364.1:c.3854A>G ENSP00000498196.1:p.Asn1285Ser
ENST00000648680.1:c.3881A>G ENSP00000497586.1:p.Asn1294Ser
ENST00000649096.1:c.3827A>G ENSP00000497030.1:p.Asn1276Ser
ENST00000649190.1:n.3124A>G
ENST00000649306.1:c.3929A>G ENSP00000497678.1:p.Asn1310Ser
ENST00000650053.1:c.3827A>G ENSP00000497824.1:p.Asn1276Ser
ENST00000650130.1:c.4103A>G ENSP00000498082.1:p.Asn1368Ser
ENST00000650430.1:n.3202A>G
ENST00000674530.1:n.193A>G
XM_005247022.1:c.4157A>G XP_005247079.1:p.Asn1386Ser
XM_005247023.1:c.4154A>G XP_005247080.1:p.Asn1385Ser
XM_005247024.1:c.4130A>G XP_005247081.1:p.Asn1377Ser
XM_005247026.1:c.3854A>G XP_005247083.1:p.Asn1285Ser
XM_005247027.1:c.3851A>G XP_005247084.1:p.Asn1284Ser
XM_005247028.1:c.3827A>G XP_005247085.1:p.Asn1276Ser
XM_006712605.1:c.4103A>G XP_006712668.1:p.Asn1368Ser
XM_011511364.1:c.4157A>G XP_011509666.1:p.Asn1386Ser
XM_011511365.1:c.3881A>G XP_011509667.1:p.Asn1294Ser
XM_011511366.1:c.3152A>G XP_011509668.1:p.Asn1051Ser
XM_011511367.1:c.3152A>G XP_011509669.1:p.Asn1051Ser