Canonical Allele Identifier: CA233110

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 155749
• ClinVar RCV Id: RCV000143820 ; RCV001065481 ; RCV001173597 ; RCV002444594
• dbSNP Id: rs374098797
• ExAC: 1:10397576 T / C
• gnomAD v2: 1-10397576-T-C
• gnomAD v3: 1-10337518-T-C
• gnomAD v4: 1-10337518-T-C
• MyVariant Identifiers: chr1:g.10397576T>C (hg19) ; chr1:g.10337518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10337518T>C , CM000663.2:g.10337518T>C	GRCh38
NC_000001.10:g.10397576T>C , CM000663.1:g.10397576T>C	GRCh37
NC_000001.9:g.10320163T>C	NCBI36
NG_008069.1:g.131813T>C , LRG_252:g.131813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3269T>C	ENSP00000512668.1:p.Ile1090Thr
ENST00000696503.1:c.3332T>C	ENSP00000512669.1:p.Ile1111Thr
ENST00000696504.1:c.3332T>C	ENSP00000512670.1:p.Ile1111Thr
ENST00000676179.1:c.3407T>C MANE Select	ENSP00000502065.1:p.Ile1136Thr
ENST00000263934.10:c.3269T>C	ENSP00000263934.6:p.Ile1090Thr
ENST00000377081.5:c.3407T>C	ENSP00000366284.1:p.Ile1136Thr
ENST00000377086.5:c.3407T>C	ENSP00000366290.1:p.Ile1136Thr
ENST00000620295.2:c.3365T>C	ENSP00000478500.1:p.Ile1122Thr
ENST00000622724.3:c.3329T>C	ENSP00000480063.1:p.Ile1110Thr
NM_015074.3:c.3269T>C , LRG_252t1:c.3269T>C	NP_055889.2:p.Ile1090Thr
NM_001365951.1:c.3407T>C	NP_001352880.1:p.Ile1136Thr
NM_001365952.1:c.3407T>C	NP_001352881.1:p.Ile1136Thr
NM_001365951.3:c.3407T>C MANE Select	NP_001352880.1:p.Ile1136Thr