Canonical Allele Identifier: CA2207853

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 464223
• ClinVar RCV Id: RCV000764396 ; RCV000559143 ; RCV002448687 ; RCV001002006
• dbSNP Id: rs779093187
• ExAC: 2:241685258 C / G
• gnomAD v2: 2-241685258-C-G
• gnomAD v3: 2-240745841-C-G
• gnomAD v4: 2-240745841-C-G
• MyVariant Identifiers: chr2:g.241685258C>G (hg19) ; chr2:g.240745841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240745841C>G , CM000664.2:g.240745841C>G	GRCh38
NC_000002.11:g.241685258C>G , CM000664.1:g.241685258C>G	GRCh37
NC_000002.10:g.241333931C>G	NCBI36
NG_029724.1:g.79367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.2968G>C	ENSP00000322791.8:p.Ala990Pro
ENST00000404283.9:c.3271G>C	ENSP00000384231.5:p.Ala1091Pro
ENST00000431776.6:c.40G>C	ENSP00000414613.2:p.Ala14Pro
ENST00000498729.9:c.3271G>C MANE Select	ENSP00000438388.1:p.Ala1091Pro
ENST00000647731.1:c.2968G>C	ENSP00000498099.1:p.Ala990Pro
ENST00000647885.1:c.2968G>C	ENSP00000497739.1:p.Ala990Pro
ENST00000648047.1:c.2206G>C	ENSP00000497935.1:p.Ala736Pro
ENST00000648129.1:c.3244G>C	ENSP00000497293.1:p.Ala1082Pro
ENST00000648364.1:c.2995G>C	ENSP00000498196.1:p.Ala999Pro
ENST00000648680.1:c.2995G>C	ENSP00000497586.1:p.Ala999Pro
ENST00000649064.1:n.3126G>C
ENST00000649096.1:c.2968G>C	ENSP00000497030.1:p.Ala990Pro
ENST00000649190.1:n.2265G>C
ENST00000649306.1:c.3070G>C	ENSP00000497678.1:p.Ala1024Pro
ENST00000650053.1:c.2968G>C	ENSP00000497824.1:p.Ala990Pro
ENST00000650130.1:c.3244G>C	ENSP00000498082.1:p.Ala1082Pro
ENST00000650430.1:n.2343G>C
ENST00000320389.11:c.2968G>C	ENSP00000322791.7:p.Ala990Pro
ENST00000404283.7:c.3271G>C	ENSP00000384231.3:p.Ala1091Pro
ENST00000415042.1:c.348G>C
ENST00000498729.6:c.3271G>C	ENSP00000438388.1:p.Ala1091Pro
NM_001244008.1:c.3271G>C	NP_001230937.1:p.Ala1091Pro
NM_004321.6:c.2968G>C	NP_004312.2:p.Ala990Pro
XM_005247022.1:c.3271G>C	XP_005247079.1:p.Ala1091Pro
XM_005247023.1:c.3271G>C	XP_005247080.1:p.Ala1091Pro
XM_005247024.1:c.3244G>C	XP_005247081.1:p.Ala1082Pro
XM_005247026.1:c.2995G>C	XP_005247083.1:p.Ala999Pro
XM_005247027.1:c.2968G>C	XP_005247084.1:p.Ala990Pro
XM_005247028.1:c.2968G>C	XP_005247085.1:p.Ala990Pro
XM_006712605.1:c.3244G>C	XP_006712668.1:p.Ala1082Pro
XM_011511364.1:c.3271G>C	XP_011509666.1:p.Ala1091Pro
XM_011511365.1:c.2995G>C	XP_011509667.1:p.Ala999Pro
XM_011511366.1:c.2266G>C	XP_011509668.1:p.Ala756Pro
XM_011511367.1:c.2266G>C	XP_011509669.1:p.Ala756Pro
NM_001320705.1:c.2995G>C	NP_001307634.1:p.Ala999Pro
NM_001330289.1:c.2995G>C	NP_001317218.1:p.Ala999Pro
NM_001330290.1:c.3070G>C	NP_001317219.1:p.Ala1024Pro
NM_004321.7:c.2968G>C	NP_004312.2:p.Ala990Pro
NM_001320705.2:c.2995G>C	NP_001307634.1:p.Ala999Pro
NM_001330289.2:c.2995G>C	NP_001317218.1:p.Ala999Pro
NM_001330290.2:c.3070G>C	NP_001317219.1:p.Ala1024Pro
NM_001244008.2:c.3271G>C MANE Select	NP_001230937.1:p.Ala1091Pro
NM_001379631.1:c.3346G>C	NP_001366560.1:p.Ala1116Pro
NM_001379632.1:c.3220G>C	NP_001366561.1:p.Ala1074Pro
NM_001379633.1:c.3244G>C	NP_001366562.1:p.Ala1082Pro
NM_001379634.1:c.3070G>C	NP_001366563.1:p.Ala1024Pro
NM_001379635.1:c.3070G>C	NP_001366564.1:p.Ala1024Pro
NM_001379636.1:c.2968G>C	NP_001366565.1:p.Ala990Pro
NM_001379637.1:c.3043G>C	NP_001366566.1:p.Ala1015Pro
NM_001379638.1:c.2995G>C	NP_001366567.1:p.Ala999Pro
NM_001379639.1:c.2968G>C	NP_001366568.1:p.Ala990Pro
NM_001379640.1:c.2965G>C	NP_001366569.1:p.Ala989Pro
NM_001379641.1:c.2968G>C	NP_001366570.1:p.Ala990Pro
NM_001379642.1:c.3244G>C	NP_001366571.1:p.Ala1082Pro
NM_001379645.1:c.3244G>C	NP_001366574.1:p.Ala1082Pro
NM_001379646.1:c.3070G>C	NP_001366575.1:p.Ala1024Pro
NM_001379648.1:c.3043G>C	NP_001366577.1:p.Ala1015Pro
NM_001379649.1:c.2968G>C	NP_001366578.1:p.Ala990Pro
NM_001379650.1:c.2968G>C	NP_001366579.1:p.Ala990Pro
NM_001379651.1:c.2968G>C	NP_001366580.1:p.Ala990Pro
NM_001379653.1:c.2968G>C	NP_001366582.1:p.Ala990Pro
NM_004321.8:c.2968G>C	NP_004312.2:p.Ala990Pro