Canonical Allele Identifier: CA338336552
Community Standard Title: NM_001365951.3(KIF1B):c.1393A>C (p.Met465Leu)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10282492A>C , CM000663.2:g.10282492A>C GRCh38
NC_000001.10:g.10342550A>C , CM000663.1:g.10342550A>C GRCh37
NC_000001.9:g.10265137A>C NCBI36
NG_008069.1:g.76787A>C , LRG_252:g.76787A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.1393A>C MANE Select NP_001352880.1:p.Met465Leu
ENST00000676179.1:c.1393A>C MANE Select ENSP00000502065.1:p.Met465Leu
NM_001365951.1:c.1393A>C NP_001352880.1:p.Met465Leu
NM_001365952.1:c.1393A>C NP_001352881.1:p.Met465Leu
NM_001365953.1:c.1255A>C NP_001352882.1:p.Met419Leu
NM_015074.3:c.1255A>C , LRG_252t1:c.1255A>C NP_055889.2:p.Met419Leu
NM_183416.3:c.1255A>C NP_904325.2:p.Met419Leu
NM_183416.4:c.1255A>C NP_904325.2:p.Met419Leu
ENST00000263934.10:c.1255A>C ENSP00000263934.6:p.Met419Leu
ENST00000377081.5:c.1393A>C ENSP00000366284.1:p.Met465Leu
ENST00000377083.5:c.1255A>C ENSP00000366287.1:p.Met419Leu
ENST00000377086.5:c.1393A>C ENSP00000366290.1:p.Met465Leu
ENST00000377093.8:c.1255A>C ENSP00000366297.4:p.Met419Leu
ENST00000377093.9:c.1255A>C ENSP00000366297.4:p.Met419Leu
ENST00000497835.1:n.43A>C
ENST00000620295.2:c.1351A>C ENSP00000478500.1:p.Met451Leu
ENST00000622724.3:c.1315A>C ENSP00000480063.1:p.Met439Leu
ENST00000696500.1:c.*427A>C ENSP00000512666.1:n.*427A>C
ENST00000696502.1:c.1255A>C ENSP00000512668.1:p.Met419Leu
ENST00000696503.1:c.1255A>C ENSP00000512669.1:p.Met419Leu
ENST00000696504.1:c.1255A>C ENSP00000512670.1:p.Met419Leu
ENST00000696507.1:c.93A>C