Canonical Allele Identifier: CA338343588

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1716825
• ClinVar RCV Id: RCV002304722
• MyVariant Identifiers: chr1:g.10408735T>C (hg19) ; chr1:g.10348677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10348677T>C , CM000663.2:g.10348677T>C	GRCh38
NC_000001.10:g.10408735T>C , CM000663.1:g.10408735T>C	GRCh37
NC_000001.9:g.10331322T>C	NCBI36
NG_008069.1:g.142972T>C , LRG_252:g.142972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3956T>C	ENSP00000512668.1:p.Ile1319Thr
ENST00000696503.1:c.3818T>C	ENSP00000512669.1:p.Ile1273Thr
ENST00000696504.1:c.3818T>C	ENSP00000512670.1:p.Ile1273Thr
ENST00000676179.1:c.3893T>C MANE Select	ENSP00000502065.1:p.Ile1298Thr
ENST00000263934.10:c.3755T>C	ENSP00000263934.6:p.Ile1252Thr
ENST00000377081.5:c.3893T>C	ENSP00000366284.1:p.Ile1298Thr
ENST00000377086.5:c.3893T>C	ENSP00000366290.1:p.Ile1298Thr
ENST00000465635.5:n.348T>C
ENST00000483340.1:n.429T>C
ENST00000620295.2:c.3851T>C	ENSP00000478500.1:p.Ile1284Thr
ENST00000622724.3:c.3815T>C	ENSP00000480063.1:p.Ile1272Thr
NM_015074.3:c.3755T>C , LRG_252t1:c.3755T>C	NP_055889.2:p.Ile1252Thr
NM_001365951.1:c.3893T>C	NP_001352880.1:p.Ile1298Thr
NM_001365952.1:c.3893T>C	NP_001352881.1:p.Ile1298Thr
NM_001365951.3:c.3893T>C MANE Select	NP_001352880.1:p.Ile1298Thr