Canonical Allele Identifier: CA432012053
Community Standard Title: NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240720970G>A , CM000664.2:g.240720970G>A GRCh38
NC_000002.11:g.241660387G>A , CM000664.1:g.241660387G>A GRCh37
NC_000002.10:g.241309060G>A NCBI36
NG_029724.1:g.104238C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4812C>T MANE Select NP_001230937.1:p.Thr1604=
ENST00000498729.9:c.4812C>T MANE Select ENSP00000438388.1:p.Thr1604=
NM_001244008.1:c.4812C>T NP_001230937.1:p.Thr1604=
NM_001320705.1:c.4536C>T NP_001307634.1:p.Thr1512=
NM_001320705.2:c.4536C>T NP_001307634.1:p.Thr1512=
NM_001330289.1:c.4563C>T NP_001317218.1:p.Thr1521=
NM_001330289.2:c.4563C>T NP_001317218.1:p.Thr1521=
NM_001330290.1:c.4611C>T NP_001317219.1:p.Thr1537=
NM_001330290.2:c.4611C>T NP_001317219.1:p.Thr1537=
NM_001379631.1:c.4887C>T NP_001366560.1:p.Thr1629=
NM_001379632.1:c.4788C>T NP_001366561.1:p.Thr1596=
NM_001379633.1:c.4785C>T NP_001366562.1:p.Thr1595=
NM_001379634.1:c.4638C>T NP_001366563.1:p.Thr1546=
NM_001379635.1:c.4635C>T NP_001366564.1:p.Thr1545=
NM_001379636.1:c.4623C>T NP_001366565.1:p.Thr1541=
NM_001379637.1:c.4584C>T NP_001366566.1:p.Thr1528=
NM_001379638.1:c.4560C>T NP_001366567.1:p.Thr1520=
NM_001379639.1:c.4533C>T NP_001366568.1:p.Thr1511=
NM_001379640.1:c.4506C>T NP_001366569.1:p.Thr1502=
NM_001379641.1:c.4509C>T NP_001366570.1:p.Thr1503=
NM_001379642.1:c.4812C>T NP_001366571.1:p.Thr1604=
NM_001379645.1:c.4785C>T NP_001366574.1:p.Thr1595=
NM_001379646.1:c.4635C>T NP_001366575.1:p.Thr1545=
NM_001379648.1:c.4611C>T NP_001366577.1:p.Thr1537=
NM_001379649.1:c.4536C>T NP_001366578.1:p.Thr1512=
NM_001379650.1:c.4509C>T NP_001366579.1:p.Thr1503=
NM_001379651.1:c.4509C>T NP_001366580.1:p.Thr1503=
NM_001379653.1:c.4509C>T NP_001366582.1:p.Thr1503=
NM_004321.6:c.4509C>T NP_004312.2:p.Thr1503=
NM_004321.7:c.4509C>T NP_004312.2:p.Thr1503=
NM_004321.8:c.4509C>T NP_004312.2:p.Thr1503=
ENST00000320389.11:c.4509C>T ENSP00000322791.7:p.Thr1503=
ENST00000320389.12:c.4533C>T ENSP00000322791.8:p.Thr1511=
ENST00000404283.9:c.4836C>T ENSP00000384231.5:p.Thr1612=
ENST00000431776.6:c.1632C>T ENSP00000414613.2:p.Thr544=
ENST00000460788.5:n.1369C>T
ENST00000465813.1:n.350C>T
ENST00000465813.2:n.372C>T
ENST00000492812.5:n.1284C>T
ENST00000492812.6:n.3395C>T
ENST00000498729.6:c.4812C>T ENSP00000438388.1:p.Thr1604=
ENST00000647731.1:c.4536C>T ENSP00000498099.1:p.Thr1512=
ENST00000647885.1:c.4623C>T ENSP00000497739.1:p.Thr1541=
ENST00000648047.1:c.3771C>T ENSP00000497935.1:p.Thr1257=
ENST00000648129.1:c.4785C>T ENSP00000497293.1:p.Thr1595=
ENST00000648364.1:c.4536C>T ENSP00000498196.1:p.Thr1512=
ENST00000648680.1:c.4563C>T ENSP00000497586.1:p.Thr1521=
ENST00000649096.1:c.4509C>T ENSP00000497030.1:p.Thr1503=
ENST00000649190.1:n.3806C>T
ENST00000649306.1:c.4611C>T ENSP00000497678.1:p.Thr1537=
ENST00000650053.1:c.4509C>T ENSP00000497824.1:p.Thr1503=
ENST00000650130.1:c.4785C>T ENSP00000498082.1:p.Thr1595=
ENST00000650430.1:n.3884C>T
ENST00000675644.1:c.69C>T ENSP00000502435.1:p.Thr23=
ENST00000675932.1:c.69C>T ENSP00000502786.1:p.Thr23=
ENST00000676050.1:c.162C>T ENSP00000501938.1:p.Thr54=
XM_005247022.1:c.4839C>T XP_005247079.1:p.Thr1613=
XM_005247023.1:c.4836C>T XP_005247080.1:p.Thr1612=
XM_005247024.1:c.4812C>T XP_005247081.1:p.Thr1604=
XM_005247026.1:c.4536C>T XP_005247083.1:p.Thr1512=
XM_005247027.1:c.4533C>T XP_005247084.1:p.Thr1511=
XM_005247028.1:c.4509C>T XP_005247085.1:p.Thr1503=
XM_006712605.1:c.4785C>T XP_006712668.1:p.Thr1595=
XM_011511364.1:c.4839C>T XP_011509666.1:p.Thr1613=
XM_011511365.1:c.4563C>T XP_011509667.1:p.Thr1521=
XM_011511366.1:c.3834C>T XP_011509668.1:p.Thr1278=
XM_011511367.1:c.3834C>T XP_011509669.1:p.Thr1278=