Canonical Allele Identifier: CA10607306

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291572
• ClinVar RCV Id: RCV000262490 ; RCV001429983 ; RCV004021342
• dbSNP Id: rs868389032
• gnomAD v4: 1-10343253-A-G
• MyVariant Identifiers: chr1:g.10403311A>G (hg19) ; chr1:g.10343253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10343253A>G , CM000663.2:g.10343253A>G	GRCh38
NC_000001.10:g.10403311A>G , CM000663.1:g.10403311A>G	GRCh37
NC_000001.9:g.10325898A>G	NCBI36
NG_008069.1:g.137548A>G , LRG_252:g.137548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3516A>G	ENSP00000512668.1:p.Arg1172=
ENST00000696503.1:c.3579A>G	ENSP00000512669.1:p.Arg1193=
ENST00000696504.1:c.3579A>G	ENSP00000512670.1:p.Arg1193=
ENST00000676179.1:c.3654A>G MANE Select	ENSP00000502065.1:p.Arg1218=
ENST00000263934.10:c.3516A>G	ENSP00000263934.6:p.Arg1172=
ENST00000377081.5:c.3654A>G	ENSP00000366284.1:p.Arg1218=
ENST00000377086.5:c.3654A>G	ENSP00000366290.1:p.Arg1218=
ENST00000620295.2:c.3612A>G	ENSP00000478500.1:p.Arg1204=
ENST00000622724.3:c.3576A>G	ENSP00000480063.1:p.Arg1192=
NM_015074.3:c.3516A>G , LRG_252t1:c.3516A>G	NP_055889.2:p.Arg1172=
NM_001365951.1:c.3654A>G	NP_001352880.1:p.Arg1218=
NM_001365952.1:c.3654A>G	NP_001352881.1:p.Arg1218=
NM_001365951.3:c.3654A>G MANE Select	NP_001352880.1:p.Arg1218=