Canonical Allele Identifier: CA17858980

Gene: KIF1B

Linked Data

• dbSNP Id: rs895254957
• gnomAD v2: 1-10438807-C-G
• gnomAD v3: 1-10378749-C-G
• gnomAD v4: 1-10378749-C-G
• MyVariant Identifiers: chr1:g.10438807C>G (hg19) ; chr1:g.10378749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378749C>G , CM000663.2:g.10378749C>G	GRCh38
NC_000001.10:g.10438807C>G , CM000663.1:g.10438807C>G	GRCh37
NC_000001.9:g.10361394C>G	NCBI36
NG_008069.1:g.173044C>G , LRG_252:g.173044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676179.1:c.*2162C>G MANE Select	ENSP00000502065.1:n.*2162C>G
ENST00000377081.5:c.*347C>G	ENSP00000366284.1:n.*347C>G
ENST00000377086.5:c.*2162C>G	ENSP00000366290.1:n.*2162C>G
ENST00000620295.2:c.5777C>G	ENSP00000478500.1:n.5777C>G
ENST00000622724.3:c.5741C>G	ENSP00000480063.1:n.5741C>G
NM_015074.3:c.*2162C>G , LRG_252t1:c.*2162C>G	NP_055889.2:n.*2162C>G
NM_001365951.1:c.*2162C>G	NP_001352880.1:n.*2162C>G
NM_001365952.1:c.*2162C>G	NP_001352881.1:n.*2162C>G
NM_001365951.3:c.*2162C>G MANE Select	NP_001352880.1:n.*2162C>G