Canonical Allele Identifier: CA581761

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 2738997
• ClinVar RCV Id: RCV003581518
• dbSNP Id: rs377631762
• ExAC: 1:10397610 C / T
• gnomAD v2: 1-10397610-C-T
• gnomAD v3: 1-10337552-C-T
• gnomAD v4: 1-10337552-C-T
• MyVariant Identifiers: chr1:g.10397610C>T (hg19) ; chr1:g.10337552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10337552C>T , CM000663.2:g.10337552C>T	GRCh38
NC_000001.10:g.10397610C>T , CM000663.1:g.10397610C>T	GRCh37
NC_000001.9:g.10320197C>T	NCBI36
NG_008069.1:g.131847C>T , LRG_252:g.131847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3284+19C>T	ENSP00000512668.1:n.3284+19C>T
ENST00000696503.1:c.3347+19C>T	ENSP00000512669.1:n.3347+19C>T
ENST00000696504.1:c.3347+19C>T	ENSP00000512670.1:n.3347+19C>T
ENST00000676179.1:c.3422+19C>T MANE Select	ENSP00000502065.1:n.3422+19C>T
ENST00000263934.10:c.3284+19C>T	ENSP00000263934.6:n.3284+19C>T
ENST00000377081.5:c.3422+19C>T	ENSP00000366284.1:n.3422+19C>T
ENST00000377086.5:c.3422+19C>T	ENSP00000366290.1:n.3422+19C>T
ENST00000620295.2:c.3380+19C>T	ENSP00000478500.1:n.3380+19C>T
ENST00000622724.3:c.3344+19C>T	ENSP00000480063.1:n.3344+19C>T
NM_015074.3:c.3284+19C>T , LRG_252t1:c.3284+19C>T	NP_055889.2:n.3284+19C>T
NM_001365951.1:c.3422+19C>T	NP_001352880.1:n.3422+19C>T
NM_001365952.1:c.3422+19C>T	NP_001352881.1:n.3422+19C>T
NM_001365951.3:c.3422+19C>T MANE Select	NP_001352880.1:n.3422+19C>T