Canonical Allele Identifier: CA351303631
Community Standard Title: NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240722482C>G , CM000664.2:g.240722482C>G GRCh38
NC_000002.11:g.241661899C>G , CM000664.1:g.241661899C>G GRCh37
NC_000002.10:g.241310572C>G NCBI36
NG_029724.1:g.102726G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4639G>C MANE Select NP_001230937.1:p.Glu1547Gln
ENST00000498729.9:c.4639G>C MANE Select ENSP00000438388.1:p.Glu1547Gln
NM_001244008.1:c.4639G>C NP_001230937.1:p.Glu1547Gln
NM_001320705.1:c.4363G>C NP_001307634.1:p.Glu1455Gln
NM_001320705.2:c.4363G>C NP_001307634.1:p.Glu1455Gln
NM_001330289.1:c.4390G>C NP_001317218.1:p.Glu1464Gln
NM_001330289.2:c.4390G>C NP_001317218.1:p.Glu1464Gln
NM_001330290.1:c.4438G>C NP_001317219.1:p.Glu1480Gln
NM_001330290.2:c.4438G>C NP_001317219.1:p.Glu1480Gln
NM_001379631.1:c.4714G>C NP_001366560.1:p.Glu1572Gln
NM_001379632.1:c.4615G>C NP_001366561.1:p.Glu1539Gln
NM_001379633.1:c.4612G>C NP_001366562.1:p.Glu1538Gln
NM_001379634.1:c.4465G>C NP_001366563.1:p.Glu1489Gln
NM_001379635.1:c.4462G>C NP_001366564.1:p.Glu1488Gln
NM_001379636.1:c.4450G>C NP_001366565.1:p.Glu1484Gln
NM_001379637.1:c.4411G>C NP_001366566.1:p.Glu1471Gln
NM_001379638.1:c.4387G>C NP_001366567.1:p.Glu1463Gln
NM_001379639.1:c.4360G>C NP_001366568.1:p.Glu1454Gln
NM_001379640.1:c.4333G>C NP_001366569.1:p.Glu1445Gln
NM_001379641.1:c.4336G>C NP_001366570.1:p.Glu1446Gln
NM_001379642.1:c.4639G>C NP_001366571.1:p.Glu1547Gln
NM_001379645.1:c.4612G>C NP_001366574.1:p.Glu1538Gln
NM_001379646.1:c.4462G>C NP_001366575.1:p.Glu1488Gln
NM_001379648.1:c.4438G>C NP_001366577.1:p.Glu1480Gln
NM_001379649.1:c.4363G>C NP_001366578.1:p.Glu1455Gln
NM_001379650.1:c.4336G>C NP_001366579.1:p.Glu1446Gln
NM_001379651.1:c.4336G>C NP_001366580.1:p.Glu1446Gln
NM_001379653.1:c.4336G>C NP_001366582.1:p.Glu1446Gln
NM_004321.6:c.4336G>C NP_004312.2:p.Glu1446Gln
NM_004321.7:c.4336G>C NP_004312.2:p.Glu1446Gln
NM_004321.8:c.4336G>C NP_004312.2:p.Glu1446Gln
ENST00000320389.11:c.4336G>C ENSP00000322791.7:p.Glu1446Gln
ENST00000320389.12:c.4360G>C ENSP00000322791.8:p.Glu1454Gln
ENST00000404283.9:c.4663G>C ENSP00000384231.5:p.Glu1555Gln
ENST00000431776.6:c.1459G>C ENSP00000414613.2:p.Glu487Gln
ENST00000460788.5:n.1196G>C
ENST00000465813.1:n.177G>C
ENST00000465813.2:n.199G>C
ENST00000492812.5:n.1111G>C
ENST00000492812.6:n.3222G>C
ENST00000498729.6:c.4639G>C ENSP00000438388.1:p.Glu1547Gln
ENST00000647731.1:c.4363G>C ENSP00000498099.1:p.Glu1455Gln
ENST00000647885.1:c.4450G>C ENSP00000497739.1:p.Glu1484Gln
ENST00000648047.1:c.3598G>C ENSP00000497935.1:p.Glu1200Gln
ENST00000648129.1:c.4612G>C ENSP00000497293.1:p.Glu1538Gln
ENST00000648364.1:c.4363G>C ENSP00000498196.1:p.Glu1455Gln
ENST00000648680.1:c.4390G>C ENSP00000497586.1:p.Glu1464Gln
ENST00000649096.1:c.4336G>C ENSP00000497030.1:p.Glu1446Gln
ENST00000649190.1:n.3633G>C
ENST00000649306.1:c.4438G>C ENSP00000497678.1:p.Glu1480Gln
ENST00000650053.1:c.4336G>C ENSP00000497824.1:p.Glu1446Gln
ENST00000650130.1:c.4612G>C ENSP00000498082.1:p.Glu1538Gln
ENST00000650430.1:n.3711G>C
XM_005247022.1:c.4666G>C XP_005247079.1:p.Glu1556Gln
XM_005247023.1:c.4663G>C XP_005247080.1:p.Glu1555Gln
XM_005247024.1:c.4639G>C XP_005247081.1:p.Glu1547Gln
XM_005247026.1:c.4363G>C XP_005247083.1:p.Glu1455Gln
XM_005247027.1:c.4360G>C XP_005247084.1:p.Glu1454Gln
XM_005247028.1:c.4336G>C XP_005247085.1:p.Glu1446Gln
XM_006712605.1:c.4612G>C XP_006712668.1:p.Glu1538Gln
XM_011511364.1:c.4666G>C XP_011509666.1:p.Glu1556Gln
XM_011511365.1:c.4390G>C XP_011509667.1:p.Glu1464Gln
XM_011511366.1:c.3661G>C XP_011509668.1:p.Glu1221Gln
XM_011511367.1:c.3661G>C XP_011509669.1:p.Glu1221Gln