Canonical Allele Identifier: CA2207298
Community Standard Title: NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240720999T>C , CM000664.2:g.240720999T>C GRCh38
NC_000002.11:g.241660416T>C , CM000664.1:g.241660416T>C GRCh37
NC_000002.10:g.241309089T>C NCBI36
NG_029724.1:g.104209A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4783A>G MANE Select NP_001230937.1:p.Met1595Val
ENST00000498729.9:c.4783A>G MANE Select ENSP00000438388.1:p.Met1595Val
NM_001244008.1:c.4783A>G NP_001230937.1:p.Met1595Val
NM_001320705.1:c.4507A>G NP_001307634.1:p.Met1503Val
NM_001320705.2:c.4507A>G NP_001307634.1:p.Met1503Val
NM_001330289.1:c.4534A>G NP_001317218.1:p.Met1512Val
NM_001330289.2:c.4534A>G NP_001317218.1:p.Met1512Val
NM_001330290.1:c.4582A>G NP_001317219.1:p.Met1528Val
NM_001330290.2:c.4582A>G NP_001317219.1:p.Met1528Val
NM_001379631.1:c.4858A>G NP_001366560.1:p.Met1620Val
NM_001379632.1:c.4759A>G NP_001366561.1:p.Met1587Val
NM_001379633.1:c.4756A>G NP_001366562.1:p.Met1586Val
NM_001379634.1:c.4609A>G NP_001366563.1:p.Met1537Val
NM_001379635.1:c.4606A>G NP_001366564.1:p.Met1536Val
NM_001379636.1:c.4594A>G NP_001366565.1:p.Met1532Val
NM_001379637.1:c.4555A>G NP_001366566.1:p.Met1519Val
NM_001379638.1:c.4531A>G NP_001366567.1:p.Met1511Val
NM_001379639.1:c.4504A>G NP_001366568.1:p.Met1502Val
NM_001379640.1:c.4477A>G NP_001366569.1:p.Met1493Val
NM_001379641.1:c.4480A>G NP_001366570.1:p.Met1494Val
NM_001379642.1:c.4783A>G NP_001366571.1:p.Met1595Val
NM_001379645.1:c.4756A>G NP_001366574.1:p.Met1586Val
NM_001379646.1:c.4606A>G NP_001366575.1:p.Met1536Val
NM_001379648.1:c.4582A>G NP_001366577.1:p.Met1528Val
NM_001379649.1:c.4507A>G NP_001366578.1:p.Met1503Val
NM_001379650.1:c.4480A>G NP_001366579.1:p.Met1494Val
NM_001379651.1:c.4480A>G NP_001366580.1:p.Met1494Val
NM_001379653.1:c.4480A>G NP_001366582.1:p.Met1494Val
NM_004321.6:c.4480A>G NP_004312.2:p.Met1494Val
NM_004321.7:c.4480A>G NP_004312.2:p.Met1494Val
NM_004321.8:c.4480A>G NP_004312.2:p.Met1494Val
ENST00000320389.11:c.4480A>G ENSP00000322791.7:p.Met1494Val
ENST00000320389.12:c.4504A>G ENSP00000322791.8:p.Met1502Val
ENST00000404283.9:c.4807A>G ENSP00000384231.5:p.Met1603Val
ENST00000431776.6:c.1603A>G ENSP00000414613.2:p.Met535Val
ENST00000460788.5:n.1340A>G
ENST00000465813.1:n.321A>G
ENST00000465813.2:n.343A>G
ENST00000492812.5:n.1255A>G
ENST00000492812.6:n.3366A>G
ENST00000498729.6:c.4783A>G ENSP00000438388.1:p.Met1595Val
ENST00000647731.1:c.4507A>G ENSP00000498099.1:p.Met1503Val
ENST00000647885.1:c.4594A>G ENSP00000497739.1:p.Met1532Val
ENST00000648047.1:c.3742A>G ENSP00000497935.1:p.Met1248Val
ENST00000648129.1:c.4756A>G ENSP00000497293.1:p.Met1586Val
ENST00000648364.1:c.4507A>G ENSP00000498196.1:p.Met1503Val
ENST00000648680.1:c.4534A>G ENSP00000497586.1:p.Met1512Val
ENST00000649096.1:c.4480A>G ENSP00000497030.1:p.Met1494Val
ENST00000649190.1:n.3777A>G
ENST00000649306.1:c.4582A>G ENSP00000497678.1:p.Met1528Val
ENST00000650053.1:c.4480A>G ENSP00000497824.1:p.Met1494Val
ENST00000650130.1:c.4756A>G ENSP00000498082.1:p.Met1586Val
ENST00000650430.1:n.3855A>G
ENST00000675644.1:c.40A>G ENSP00000502435.1:p.Met14Val
ENST00000675932.1:c.40A>G ENSP00000502786.1:p.Met14Val
ENST00000676050.1:c.133A>G ENSP00000501938.1:p.Met45Val
XM_005247022.1:c.4810A>G XP_005247079.1:p.Met1604Val
XM_005247023.1:c.4807A>G XP_005247080.1:p.Met1603Val
XM_005247024.1:c.4783A>G XP_005247081.1:p.Met1595Val
XM_005247026.1:c.4507A>G XP_005247083.1:p.Met1503Val
XM_005247027.1:c.4504A>G XP_005247084.1:p.Met1502Val
XM_005247028.1:c.4480A>G XP_005247085.1:p.Met1494Val
XM_006712605.1:c.4756A>G XP_006712668.1:p.Met1586Val
XM_011511364.1:c.4810A>G XP_011509666.1:p.Met1604Val
XM_011511365.1:c.4534A>G XP_011509667.1:p.Met1512Val
XM_011511366.1:c.3805A>G XP_011509668.1:p.Met1269Val
XM_011511367.1:c.3805A>G XP_011509669.1:p.Met1269Val