Canonical Allele Identifier: CA351297241
Community Standard Title: NM_001244008.2(KIF1A):c.5355G>C (p.Arg1785Ser)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240717385C>G , CM000664.2:g.240717385C>G GRCh38
NC_000002.11:g.241656802C>G , CM000664.1:g.241656802C>G GRCh37
NC_000002.10:g.241305475C>G NCBI36
NG_029724.1:g.107823G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5355G>C MANE Select NP_001230937.1:p.Arg1785Ser
ENST00000498729.9:c.5355G>C MANE Select ENSP00000438388.1:p.Arg1785Ser
NM_001244008.1:c.5355G>C NP_001230937.1:p.Arg1785Ser
NM_001320705.1:c.5079G>C NP_001307634.1:p.Arg1693Ser
NM_001320705.2:c.5079G>C NP_001307634.1:p.Arg1693Ser
NM_001330289.1:c.5106G>C NP_001317218.1:p.Arg1702Ser
NM_001330289.2:c.5106G>C NP_001317218.1:p.Arg1702Ser
NM_001330290.1:c.5154G>C NP_001317219.1:p.Arg1718Ser
NM_001330290.2:c.5154G>C NP_001317219.1:p.Arg1718Ser
NM_001379631.1:c.5430G>C NP_001366560.1:p.Arg1810Ser
NM_001379632.1:c.5331G>C NP_001366561.1:p.Arg1777Ser
NM_001379633.1:c.5328G>C NP_001366562.1:p.Arg1776Ser
NM_001379634.1:c.5181G>C NP_001366563.1:p.Arg1727Ser
NM_001379635.1:c.5178G>C NP_001366564.1:p.Arg1726Ser
NM_001379636.1:c.5166G>C NP_001366565.1:p.Arg1722Ser
NM_001379637.1:c.5127G>C NP_001366566.1:p.Arg1709Ser
NM_001379638.1:c.5103G>C NP_001366567.1:p.Arg1701Ser
NM_001379639.1:c.5076G>C NP_001366568.1:p.Arg1692Ser
NM_001379640.1:c.5049G>C NP_001366569.1:p.Arg1683Ser
NM_001379641.1:c.5016G>C NP_001366570.1:p.Arg1672Ser
NM_001379642.1:c.5355G>C NP_001366571.1:p.Arg1785Ser
NM_001379645.1:c.5328G>C NP_001366574.1:p.Arg1776Ser
NM_001379646.1:c.5178G>C NP_001366575.1:p.Arg1726Ser
NM_001379648.1:c.5154G>C NP_001366577.1:p.Arg1718Ser
NM_001379649.1:c.5079G>C NP_001366578.1:p.Arg1693Ser
NM_001379650.1:c.5052G>C NP_001366579.1:p.Arg1684Ser
NM_001379651.1:c.5052G>C NP_001366580.1:p.Arg1684Ser
NM_001379653.1:c.5052G>C NP_001366582.1:p.Arg1684Ser
NM_004321.6:c.5052G>C NP_004312.2:p.Arg1684Ser
NM_004321.7:c.5052G>C NP_004312.2:p.Arg1684Ser
NM_004321.8:c.5052G>C NP_004312.2:p.Arg1684Ser
ENST00000320389.11:c.5052G>C ENSP00000322791.7:p.Arg1684Ser
ENST00000320389.12:c.5076G>C ENSP00000322791.8:p.Arg1692Ser
ENST00000404283.9:c.5379G>C ENSP00000384231.5:p.Arg1793Ser
ENST00000431776.6:c.2175G>C ENSP00000414613.2:p.Arg725Ser
ENST00000460788.5:n.1912G>C
ENST00000492812.5:n.1827G>C
ENST00000492812.6:n.3938G>C
ENST00000498729.6:c.5355G>C ENSP00000438388.1:p.Arg1785Ser
ENST00000647731.1:c.5079G>C ENSP00000498099.1:p.Arg1693Ser
ENST00000647885.1:c.5166G>C ENSP00000497739.1:p.Arg1722Ser
ENST00000648047.1:c.4314G>C ENSP00000497935.1:p.Arg1438Ser
ENST00000648129.1:c.5328G>C ENSP00000497293.1:p.Arg1776Ser
ENST00000648364.1:c.5079G>C ENSP00000498196.1:p.Arg1693Ser
ENST00000648680.1:c.5106G>C ENSP00000497586.1:p.Arg1702Ser
ENST00000649096.1:c.5052G>C ENSP00000497030.1:p.Arg1684Ser
ENST00000649190.1:n.4349G>C
ENST00000649306.1:c.5154G>C ENSP00000497678.1:p.Arg1718Ser
ENST00000650053.1:c.5052G>C ENSP00000497824.1:p.Arg1684Ser
ENST00000650130.1:c.5328G>C ENSP00000498082.1:p.Arg1776Ser
ENST00000650430.1:n.4427G>C
XM_005247022.1:c.5382G>C XP_005247079.1:p.Arg1794Ser
XM_005247023.1:c.5379G>C XP_005247080.1:p.Arg1793Ser
XM_005247024.1:c.5355G>C XP_005247081.1:p.Arg1785Ser
XM_005247026.1:c.5079G>C XP_005247083.1:p.Arg1693Ser
XM_005247027.1:c.5076G>C XP_005247084.1:p.Arg1692Ser
XM_005247028.1:c.5052G>C XP_005247085.1:p.Arg1684Ser
XM_006712605.1:c.5328G>C XP_006712668.1:p.Arg1776Ser
XM_011511364.1:c.5382G>C XP_011509666.1:p.Arg1794Ser
XM_011511365.1:c.5106G>C XP_011509667.1:p.Arg1702Ser
XM_011511366.1:c.4377G>C XP_011509668.1:p.Arg1459Ser
XM_011511367.1:c.4377G>C XP_011509669.1:p.Arg1459Ser