Canonical Allele Identifier: CA2207235
Community Standard Title: NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719811G>A , CM000664.2:g.240719811G>A GRCh38
NC_000002.11:g.241659228G>A , CM000664.1:g.241659228G>A GRCh37
NC_000002.10:g.241307901G>A NCBI36
NG_029724.1:g.105397C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4984C>T MANE Select NP_001230937.1:p.Arg1662Cys
ENST00000498729.9:c.4984C>T MANE Select ENSP00000438388.1:p.Arg1662Cys
NM_001244008.1:c.4984C>T NP_001230937.1:p.Arg1662Cys
NM_001320705.1:c.4708C>T NP_001307634.1:p.Arg1570Cys
NM_001320705.2:c.4708C>T NP_001307634.1:p.Arg1570Cys
NM_001330289.1:c.4735C>T NP_001317218.1:p.Arg1579Cys
NM_001330289.2:c.4735C>T NP_001317218.1:p.Arg1579Cys
NM_001330290.1:c.4783C>T NP_001317219.1:p.Arg1595Cys
NM_001330290.2:c.4783C>T NP_001317219.1:p.Arg1595Cys
NM_001379631.1:c.5059C>T NP_001366560.1:p.Arg1687Cys
NM_001379632.1:c.4960C>T NP_001366561.1:p.Arg1654Cys
NM_001379633.1:c.4957C>T NP_001366562.1:p.Arg1653Cys
NM_001379634.1:c.4810C>T NP_001366563.1:p.Arg1604Cys
NM_001379635.1:c.4807C>T NP_001366564.1:p.Arg1603Cys
NM_001379636.1:c.4795C>T NP_001366565.1:p.Arg1599Cys
NM_001379637.1:c.4756C>T NP_001366566.1:p.Arg1586Cys
NM_001379638.1:c.4732C>T NP_001366567.1:p.Arg1578Cys
NM_001379639.1:c.4705C>T NP_001366568.1:p.Arg1569Cys
NM_001379640.1:c.4678C>T NP_001366569.1:p.Arg1560Cys
NM_001379641.1:c.4681C>T NP_001366570.1:p.Arg1561Cys
NM_001379642.1:c.4984C>T NP_001366571.1:p.Arg1662Cys
NM_001379645.1:c.4957C>T NP_001366574.1:p.Arg1653Cys
NM_001379646.1:c.4807C>T NP_001366575.1:p.Arg1603Cys
NM_001379648.1:c.4783C>T NP_001366577.1:p.Arg1595Cys
NM_001379649.1:c.4708C>T NP_001366578.1:p.Arg1570Cys
NM_001379650.1:c.4681C>T NP_001366579.1:p.Arg1561Cys
NM_001379651.1:c.4681C>T NP_001366580.1:p.Arg1561Cys
NM_001379653.1:c.4681C>T NP_001366582.1:p.Arg1561Cys
NM_004321.6:c.4681C>T NP_004312.2:p.Arg1561Cys
NM_004321.7:c.4681C>T NP_004312.2:p.Arg1561Cys
NM_004321.8:c.4681C>T NP_004312.2:p.Arg1561Cys
ENST00000320389.11:c.4681C>T ENSP00000322791.7:p.Arg1561Cys
ENST00000320389.12:c.4705C>T ENSP00000322791.8:p.Arg1569Cys
ENST00000404283.9:c.5008C>T ENSP00000384231.5:p.Arg1670Cys
ENST00000431776.6:c.1804C>T ENSP00000414613.2:p.Arg602Cys
ENST00000460788.5:n.1541C>T
ENST00000488776.1:n.475C>T
ENST00000492812.5:n.1456C>T
ENST00000492812.6:n.3567C>T
ENST00000498729.6:c.4984C>T ENSP00000438388.1:p.Arg1662Cys
ENST00000647731.1:c.4708C>T ENSP00000498099.1:p.Arg1570Cys
ENST00000647885.1:c.4795C>T ENSP00000497739.1:p.Arg1599Cys
ENST00000648047.1:c.3943C>T ENSP00000497935.1:p.Arg1315Cys
ENST00000648129.1:c.4957C>T ENSP00000497293.1:p.Arg1653Cys
ENST00000648364.1:c.4708C>T ENSP00000498196.1:p.Arg1570Cys
ENST00000648680.1:c.4735C>T ENSP00000497586.1:p.Arg1579Cys
ENST00000649096.1:c.4681C>T ENSP00000497030.1:p.Arg1561Cys
ENST00000649190.1:n.3978C>T
ENST00000649306.1:c.4783C>T ENSP00000497678.1:p.Arg1595Cys
ENST00000650053.1:c.4681C>T ENSP00000497824.1:p.Arg1561Cys
ENST00000650130.1:c.4957C>T ENSP00000498082.1:p.Arg1653Cys
ENST00000650430.1:n.4056C>T
ENST00000675644.1:c.406C>T ENSP00000502435.1:n.406C>T
ENST00000675932.1:c.261C>T ENSP00000502786.1:p.Ser87=
XM_005247022.1:c.5011C>T XP_005247079.1:p.Arg1671Cys
XM_005247023.1:c.5008C>T XP_005247080.1:p.Arg1670Cys
XM_005247024.1:c.4984C>T XP_005247081.1:p.Arg1662Cys
XM_005247026.1:c.4708C>T XP_005247083.1:p.Arg1570Cys
XM_005247027.1:c.4705C>T XP_005247084.1:p.Arg1569Cys
XM_005247028.1:c.4681C>T XP_005247085.1:p.Arg1561Cys
XM_006712605.1:c.4957C>T XP_006712668.1:p.Arg1653Cys
XM_011511364.1:c.5011C>T XP_011509666.1:p.Arg1671Cys
XM_011511365.1:c.4735C>T XP_011509667.1:p.Arg1579Cys
XM_011511366.1:c.4006C>T XP_011509668.1:p.Arg1336Cys
XM_011511367.1:c.4006C>T XP_011509669.1:p.Arg1336Cys