Canonical Allele Identifier: CA338333290

Gene: KIF1B

Linked Data

• MyVariant Identifiers: chr1:g.10438437T>C (hg19) ; chr1:g.10378379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378379T>C , CM000663.2:g.10378379T>C	GRCh38
NC_000001.10:g.10438437T>C , CM000663.1:g.10438437T>C	GRCh37
NC_000001.9:g.10361024T>C	NCBI36
NG_008069.1:g.172674T>C , LRG_252:g.172674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676179.1:c.*1792T>C MANE Select	ENSP00000502065.1:n.*1792T>C
ENST00000377081.5:c.5449T>C	ENSP00000366284.1:p.Ser1817Pro
ENST00000377086.5:c.*1792T>C	ENSP00000366290.1:n.*1792T>C
ENST00000620295.2:c.5407T>C	ENSP00000478500.1:p.Ser1803Pro
ENST00000622724.3:c.5371T>C	ENSP00000480063.1:p.Ser1791Pro
NM_015074.3:c.*1792T>C , LRG_252t1:c.*1792T>C	NP_055889.2:n.*1792T>C
NM_001365951.1:c.*1792T>C	NP_001352880.1:n.*1792T>C
NM_001365952.1:c.*1792T>C	NP_001352881.1:n.*1792T>C
NM_001365951.3:c.*1792T>C MANE Select	NP_001352880.1:n.*1792T>C