Canonical Allele Identifier: CA415883457
Gene: KIF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1728611
ClinVar RCV Id: RCV004048875
gnomAD v4: 1-10337438-C-T
MyVariant Identifiers: chr1:g.10397496C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10337438C>T , CM000663.2:g.10337438C>T GRCh38
NC_000001.10:g.10397496C>T , CM000663.1:g.10397496C>T GRCh37
NC_000001.9:g.10320083C>T NCBI36
NG_008069.1:g.131733C>T , LRG_252:g.131733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3189C>T ENSP00000512668.1:p.Asn1063=
ENST00000696503.1:c.3252C>T ENSP00000512669.1:p.Asn1084=
ENST00000696504.1:c.3252C>T ENSP00000512670.1:p.Asn1084=
ENST00000676179.1:c.3327C>T MANE Select ENSP00000502065.1:p.Asn1109=
ENST00000263934.10:c.3189C>T ENSP00000263934.6:p.Asn1063=
ENST00000377081.5:c.3327C>T ENSP00000366284.1:p.Asn1109=
ENST00000377086.5:c.3327C>T ENSP00000366290.1:p.Asn1109=
ENST00000620295.2:c.3285C>T ENSP00000478500.1:p.Asn1095=
ENST00000622724.3:c.3249C>T ENSP00000480063.1:p.Asn1083=
NM_015074.3:c.3189C>T , LRG_252t1:c.3189C>T NP_055889.2:p.Asn1063=
NM_001365951.1:c.3327C>T NP_001352880.1:p.Asn1109=
NM_001365952.1:c.3327C>T NP_001352881.1:p.Asn1109=
NM_001365951.3:c.3327C>T MANE Select NP_001352880.1:p.Asn1109=