Canonical Allele Identifier: CA351299953
Community Standard Title: NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719790G>A , CM000664.2:g.240719790G>A GRCh38
NC_000002.11:g.241659207G>A , CM000664.1:g.241659207G>A GRCh37
NC_000002.10:g.241307880G>A NCBI36
NG_029724.1:g.105418C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5005C>T MANE Select NP_001230937.1:p.Gln1669Ter
ENST00000498729.9:c.5005C>T MANE Select ENSP00000438388.1:p.Gln1669Ter
NM_001244008.1:c.5005C>T NP_001230937.1:p.Gln1669Ter
NM_001320705.1:c.4729C>T NP_001307634.1:p.Gln1577Ter
NM_001320705.2:c.4729C>T NP_001307634.1:p.Gln1577Ter
NM_001330289.1:c.4756C>T NP_001317218.1:p.Gln1586Ter
NM_001330289.2:c.4756C>T NP_001317218.1:p.Gln1586Ter
NM_001330290.1:c.4804C>T NP_001317219.1:p.Gln1602Ter
NM_001330290.2:c.4804C>T NP_001317219.1:p.Gln1602Ter
NM_001379631.1:c.5080C>T NP_001366560.1:p.Gln1694Ter
NM_001379632.1:c.4981C>T NP_001366561.1:p.Gln1661Ter
NM_001379633.1:c.4978C>T NP_001366562.1:p.Gln1660Ter
NM_001379634.1:c.4831C>T NP_001366563.1:p.Gln1611Ter
NM_001379635.1:c.4828C>T NP_001366564.1:p.Gln1610Ter
NM_001379636.1:c.4816C>T NP_001366565.1:p.Gln1606Ter
NM_001379637.1:c.4777C>T NP_001366566.1:p.Gln1593Ter
NM_001379638.1:c.4753C>T NP_001366567.1:p.Gln1585Ter
NM_001379639.1:c.4726C>T NP_001366568.1:p.Gln1576Ter
NM_001379640.1:c.4699C>T NP_001366569.1:p.Gln1567Ter
NM_001379641.1:c.4702C>T NP_001366570.1:p.Gln1568Ter
NM_001379642.1:c.5005C>T NP_001366571.1:p.Gln1669Ter
NM_001379645.1:c.4978C>T NP_001366574.1:p.Gln1660Ter
NM_001379646.1:c.4828C>T NP_001366575.1:p.Gln1610Ter
NM_001379648.1:c.4804C>T NP_001366577.1:p.Gln1602Ter
NM_001379649.1:c.4729C>T NP_001366578.1:p.Gln1577Ter
NM_001379650.1:c.4702C>T NP_001366579.1:p.Gln1568Ter
NM_001379651.1:c.4702C>T NP_001366580.1:p.Gln1568Ter
NM_001379653.1:c.4702C>T NP_001366582.1:p.Gln1568Ter
NM_004321.6:c.4702C>T NP_004312.2:p.Gln1568Ter
NM_004321.7:c.4702C>T NP_004312.2:p.Gln1568Ter
NM_004321.8:c.4702C>T NP_004312.2:p.Gln1568Ter
ENST00000320389.11:c.4702C>T ENSP00000322791.7:p.Gln1568Ter
ENST00000320389.12:c.4726C>T ENSP00000322791.8:p.Gln1576Ter
ENST00000404283.9:c.5029C>T ENSP00000384231.5:p.Gln1677Ter
ENST00000431776.6:c.1825C>T ENSP00000414613.2:p.Gln609Ter
ENST00000460788.5:n.1562C>T
ENST00000488776.1:n.496C>T
ENST00000492812.5:n.1477C>T
ENST00000492812.6:n.3588C>T
ENST00000498729.6:c.5005C>T ENSP00000438388.1:p.Gln1669Ter
ENST00000647731.1:c.4729C>T ENSP00000498099.1:p.Gln1577Ter
ENST00000647885.1:c.4816C>T ENSP00000497739.1:p.Gln1606Ter
ENST00000648047.1:c.3964C>T ENSP00000497935.1:p.Gln1322Ter
ENST00000648129.1:c.4978C>T ENSP00000497293.1:p.Gln1660Ter
ENST00000648364.1:c.4729C>T ENSP00000498196.1:p.Gln1577Ter
ENST00000648680.1:c.4756C>T ENSP00000497586.1:p.Gln1586Ter
ENST00000649096.1:c.4702C>T ENSP00000497030.1:p.Gln1568Ter
ENST00000649190.1:n.3999C>T
ENST00000649306.1:c.4804C>T ENSP00000497678.1:p.Gln1602Ter
ENST00000650053.1:c.4702C>T ENSP00000497824.1:p.Gln1568Ter
ENST00000650130.1:c.4978C>T ENSP00000498082.1:p.Gln1660Ter
ENST00000650430.1:n.4077C>T
ENST00000675644.1:c.427C>T ENSP00000502435.1:n.427C>T
ENST00000675932.1:c.282C>T ENSP00000502786.1:p.Ser94=
XM_005247022.1:c.5032C>T XP_005247079.1:p.Gln1678Ter
XM_005247023.1:c.5029C>T XP_005247080.1:p.Gln1677Ter
XM_005247024.1:c.5005C>T XP_005247081.1:p.Gln1669Ter
XM_005247026.1:c.4729C>T XP_005247083.1:p.Gln1577Ter
XM_005247027.1:c.4726C>T XP_005247084.1:p.Gln1576Ter
XM_005247028.1:c.4702C>T XP_005247085.1:p.Gln1568Ter
XM_006712605.1:c.4978C>T XP_006712668.1:p.Gln1660Ter
XM_011511364.1:c.5032C>T XP_011509666.1:p.Gln1678Ter
XM_011511365.1:c.4756C>T XP_011509667.1:p.Gln1586Ter
XM_011511366.1:c.4027C>T XP_011509668.1:p.Gln1343Ter
XM_011511367.1:c.4027C>T XP_011509669.1:p.Gln1343Ter