Canonical Allele Identifier: CA415885347
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1652676516
gnomAD v4: 1-10348672-G-T
MyVariant Identifiers: chr1:g.10408730G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10348672G>T , CM000663.2:g.10348672G>T GRCh38
NC_000001.10:g.10408730G>T , CM000663.1:g.10408730G>T GRCh37
NC_000001.9:g.10331317G>T NCBI36
NG_008069.1:g.142967G>T , LRG_252:g.142967G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3951G>T ENSP00000512668.1:p.Val1317=
ENST00000696503.1:c.3813G>T ENSP00000512669.1:p.Val1271=
ENST00000696504.1:c.3813G>T ENSP00000512670.1:p.Val1271=
ENST00000676179.1:c.3888G>T MANE Select ENSP00000502065.1:p.Val1296=
ENST00000263934.10:c.3750G>T ENSP00000263934.6:p.Val1250=
ENST00000377081.5:c.3888G>T ENSP00000366284.1:p.Val1296=
ENST00000377086.5:c.3888G>T ENSP00000366290.1:p.Val1296=
ENST00000465635.5:n.343G>T
ENST00000483340.1:n.424G>T
ENST00000620295.2:c.3846G>T ENSP00000478500.1:p.Val1282=
ENST00000622724.3:c.3810G>T ENSP00000480063.1:p.Val1270=
NM_015074.3:c.3750G>T , LRG_252t1:c.3750G>T NP_055889.2:p.Val1250=
NM_001365951.1:c.3888G>T NP_001352880.1:p.Val1296=
NM_001365952.1:c.3888G>T NP_001352881.1:p.Val1296=
NM_001365951.3:c.3888G>T MANE Select NP_001352880.1:p.Val1296=