Canonical Allele Identifier: CA233113

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 155750
• ClinVar RCV Id: RCV000143821 ; RCV001080346 ; RCV001098766 ; RCV001174215 ; RCV004019755
• dbSNP Id: rs200561798
• ExAC: 1:10421790 T / C
• gnomAD v2: 1-10421790-T-C
• gnomAD v3: 1-10361732-T-C
• gnomAD v4: 1-10361732-T-C
• MyVariant Identifiers: chr1:g.10421790T>C (hg19) ; chr1:g.10361732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10361732T>C , CM000663.2:g.10361732T>C	GRCh38
NC_000001.10:g.10421790T>C , CM000663.1:g.10421790T>C	GRCh37
NC_000001.9:g.10344377T>C	NCBI36
NG_008069.1:g.156027T>C , LRG_252:g.156027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.4274T>C	ENSP00000512668.1:p.Val1425Ala
ENST00000696503.1:c.4136T>C	ENSP00000512669.1:p.Val1379Ala
ENST00000696504.1:c.4136T>C	ENSP00000512670.1:p.Val1379Ala
ENST00000676179.1:c.4211T>C MANE Select	ENSP00000502065.1:p.Val1404Ala
ENST00000263934.10:c.4073T>C	ENSP00000263934.6:p.Val1358Ala
ENST00000377081.5:c.4211T>C	ENSP00000366284.1:p.Val1404Ala
ENST00000377086.5:c.4211T>C	ENSP00000366290.1:p.Val1404Ala
ENST00000465635.5:n.666T>C
ENST00000483340.1:n.747T>C
ENST00000620295.2:c.4169T>C	ENSP00000478500.1:p.Val1390Ala
ENST00000622724.3:c.4133T>C	ENSP00000480063.1:p.Val1378Ala
ENST00000635499.1:c.256T>C
NM_015074.3:c.4073T>C , LRG_252t1:c.4073T>C	NP_055889.2:p.Val1358Ala
XR_946953.1:n.356-266A>G
NM_001365951.1:c.4211T>C	NP_001352880.1:p.Val1404Ala
NM_001365952.1:c.4211T>C	NP_001352881.1:p.Val1404Ala
XR_946953.2:n.231-266A>G
NM_001365951.3:c.4211T>C MANE Select	NP_001352880.1:p.Val1404Ala