Canonical Allele Identifier: CA338342163

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 2448716
• ClinVar RCV Id: RCV004244693
• gnomAD v4: 1-10343283-G-C
• MyVariant Identifiers: chr1:g.10403341G>C (hg19) ; chr1:g.10343283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10343283G>C , CM000663.2:g.10343283G>C	GRCh38
NC_000001.10:g.10403341G>C , CM000663.1:g.10403341G>C	GRCh37
NC_000001.9:g.10325928G>C	NCBI36
NG_008069.1:g.137578G>C , LRG_252:g.137578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3546G>C	ENSP00000512668.1:p.Lys1182Asn
ENST00000696503.1:c.3609G>C	ENSP00000512669.1:p.Lys1203Asn
ENST00000696504.1:c.3609G>C	ENSP00000512670.1:p.Lys1203Asn
ENST00000676179.1:c.3684G>C MANE Select	ENSP00000502065.1:p.Lys1228Asn
ENST00000263934.10:c.3546G>C	ENSP00000263934.6:p.Lys1182Asn
ENST00000377081.5:c.3684G>C	ENSP00000366284.1:p.Lys1228Asn
ENST00000377086.5:c.3684G>C	ENSP00000366290.1:p.Lys1228Asn
ENST00000620295.2:c.3642G>C	ENSP00000478500.1:p.Lys1214Asn
ENST00000622724.3:c.3606G>C	ENSP00000480063.1:p.Lys1202Asn
NM_015074.3:c.3546G>C , LRG_252t1:c.3546G>C	NP_055889.2:p.Lys1182Asn
NM_001365951.1:c.3684G>C	NP_001352880.1:p.Lys1228Asn
NM_001365952.1:c.3684G>C	NP_001352881.1:p.Lys1228Asn
NM_001365951.3:c.3684G>C MANE Select	NP_001352880.1:p.Lys1228Asn