Canonical Allele Identifier: CA252136692

Gene: KLHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.69881529A>C , CM000675.2:g.69881529A>C	GRCh38
NC_000013.10:g.70455661A>C , CM000675.1:g.70455661A>C	GRCh37
NC_000013.9:g.69353662A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377844.9:c.1227+754T>G MANE Select	ENSP00000367075.4:n.1227+754T>G
ENST00000377844.8:c.1227+754T>G	ENSP00000367075.4:n.1227+754T>G
ENST00000545028.2:c.1044+754T>G	ENSP00000439602.2:n.1044+754T>G
NM_001286725.1:c.1044+754T>G	NP_001273654.1:n.1044+754T>G
NM_020866.2:c.1227+754T>G	NP_065917.1:n.1227+754T>G
XM_017020678.2:c.708+754T>G	XP_016876167.1:n.708+754T>G
XM_017020679.1:c.558+754T>G	XP_016876168.1:n.558+754T>G
NM_020866.3:c.1227+754T>G MANE Select	NP_065917.1:n.1227+754T>G
NM_001286725.2:c.1044+754T>G	NP_001273654.1:n.1044+754T>G