Canonical Allele Identifier: CA521146909
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1234943835
gnomAD v2: 1-10380065-C-T
gnomAD v4: 1-10320007-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10320007C>T , CM000663.2:g.10320007C>T GRCh38
NC_000001.10:g.10380065C>T , CM000663.1:g.10380065C>T GRCh37
NC_000001.9:g.10302652C>T NCBI36
NG_008069.1:g.114302C>T , LRG_252:g.114302C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696502.1:c.1978-36C>T ENSP00000512668.1:n.1978-36C>T
ENST00000696503.1:c.2041-36C>T ENSP00000512669.1:n.2041-36C>T
ENST00000696504.1:c.2041-36C>T ENSP00000512670.1:n.2041-36C>T
ENST00000676179.1:c.2116-36C>T MANE Select ENSP00000502065.1:n.2116-36C>T
ENST00000263934.10:c.1978-36C>T ENSP00000263934.6:n.1978-36C>T
ENST00000377081.5:c.2116-36C>T ENSP00000366284.1:n.2116-36C>T
ENST00000377086.5:c.2116-36C>T ENSP00000366290.1:n.2116-36C>T
ENST00000620295.2:c.2074-36C>T ENSP00000478500.1:n.2074-36C>T
ENST00000622724.3:c.2038-36C>T ENSP00000480063.1:n.2038-36C>T
NM_015074.3:c.1978-36C>T , LRG_252t1:c.1978-36C>T NP_055889.2:n.1978-36C>T
NM_001365951.1:c.2116-36C>T NP_001352880.1:n.2116-36C>T
NM_001365952.1:c.2116-36C>T NP_001352881.1:n.2116-36C>T
NM_001365951.3:c.2116-36C>T MANE Select NP_001352880.1:n.2116-36C>T