Canonical Allele Identifier: CA2207166
Community Standard Title: NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719077C>T , CM000664.2:g.240719077C>T GRCh38
NC_000002.11:g.241658494C>T , CM000664.1:g.241658494C>T GRCh37
NC_000002.10:g.241307167C>T NCBI36
NG_029724.1:g.106131G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5143G>A MANE Select NP_001230937.1:p.Val1715Met
ENST00000498729.9:c.5143G>A MANE Select ENSP00000438388.1:p.Val1715Met
NM_001244008.1:c.5143G>A NP_001230937.1:p.Val1715Met
NM_001320705.1:c.4867G>A NP_001307634.1:p.Val1623Met
NM_001320705.2:c.4867G>A NP_001307634.1:p.Val1623Met
NM_001330289.1:c.4894G>A NP_001317218.1:p.Val1632Met
NM_001330289.2:c.4894G>A NP_001317218.1:p.Val1632Met
NM_001330290.1:c.4942G>A NP_001317219.1:p.Val1648Met
NM_001330290.2:c.4942G>A NP_001317219.1:p.Val1648Met
NM_001379631.1:c.5218G>A NP_001366560.1:p.Val1740Met
NM_001379632.1:c.5119G>A NP_001366561.1:p.Val1707Met
NM_001379633.1:c.5116G>A NP_001366562.1:p.Val1706Met
NM_001379634.1:c.4969G>A NP_001366563.1:p.Val1657Met
NM_001379635.1:c.4966G>A NP_001366564.1:p.Val1656Met
NM_001379636.1:c.4954G>A NP_001366565.1:p.Val1652Met
NM_001379637.1:c.4915G>A NP_001366566.1:p.Val1639Met
NM_001379638.1:c.4891G>A NP_001366567.1:p.Val1631Met
NM_001379639.1:c.4864G>A NP_001366568.1:p.Val1622Met
NM_001379640.1:c.4837G>A NP_001366569.1:p.Val1613Met
NM_001379641.1:c.4840G>A NP_001366570.1:p.Val1614Met
NM_001379642.1:c.5143G>A NP_001366571.1:p.Val1715Met
NM_001379645.1:c.5116G>A NP_001366574.1:p.Val1706Met
NM_001379646.1:c.4966G>A NP_001366575.1:p.Val1656Met
NM_001379648.1:c.4942G>A NP_001366577.1:p.Val1648Met
NM_001379649.1:c.4867G>A NP_001366578.1:p.Val1623Met
NM_001379650.1:c.4840G>A NP_001366579.1:p.Val1614Met
NM_001379651.1:c.4840G>A NP_001366580.1:p.Val1614Met
NM_001379653.1:c.4840G>A NP_001366582.1:p.Val1614Met
NM_004321.6:c.4840G>A NP_004312.2:p.Val1614Met
NM_004321.7:c.4840G>A NP_004312.2:p.Val1614Met
NM_004321.8:c.4840G>A NP_004312.2:p.Val1614Met
ENST00000320389.11:c.4840G>A ENSP00000322791.7:p.Val1614Met
ENST00000320389.12:c.4864G>A ENSP00000322791.8:p.Val1622Met
ENST00000404283.9:c.5167G>A ENSP00000384231.5:p.Val1723Met
ENST00000431776.6:c.1963G>A ENSP00000414613.2:p.Val655Met
ENST00000460788.5:n.1700G>A
ENST00000492812.5:n.1615G>A
ENST00000492812.6:n.3726G>A
ENST00000498729.6:c.5143G>A ENSP00000438388.1:p.Val1715Met
ENST00000647731.1:c.4867G>A ENSP00000498099.1:p.Val1623Met
ENST00000647885.1:c.4954G>A ENSP00000497739.1:p.Val1652Met
ENST00000648047.1:c.4102G>A ENSP00000497935.1:p.Val1368Met
ENST00000648129.1:c.5116G>A ENSP00000497293.1:p.Val1706Met
ENST00000648364.1:c.4867G>A ENSP00000498196.1:p.Val1623Met
ENST00000648680.1:c.4894G>A ENSP00000497586.1:p.Val1632Met
ENST00000649096.1:c.4840G>A ENSP00000497030.1:p.Val1614Met
ENST00000649190.1:n.4137G>A
ENST00000649306.1:c.4942G>A ENSP00000497678.1:p.Val1648Met
ENST00000650053.1:c.4840G>A ENSP00000497824.1:p.Val1614Met
ENST00000650130.1:c.5116G>A ENSP00000498082.1:p.Val1706Met
ENST00000650430.1:n.4215G>A
XM_005247022.1:c.5170G>A XP_005247079.1:p.Val1724Met
XM_005247023.1:c.5167G>A XP_005247080.1:p.Val1723Met
XM_005247024.1:c.5143G>A XP_005247081.1:p.Val1715Met
XM_005247026.1:c.4867G>A XP_005247083.1:p.Val1623Met
XM_005247027.1:c.4864G>A XP_005247084.1:p.Val1622Met
XM_005247028.1:c.4840G>A XP_005247085.1:p.Val1614Met
XM_006712605.1:c.5116G>A XP_006712668.1:p.Val1706Met
XM_011511364.1:c.5170G>A XP_011509666.1:p.Val1724Met
XM_011511365.1:c.4894G>A XP_011509667.1:p.Val1632Met
XM_011511366.1:c.4165G>A XP_011509668.1:p.Val1389Met
XM_011511367.1:c.4165G>A XP_011509669.1:p.Val1389Met