Canonical Allele Identifier: CA2100143523

Gene: KLHL1

Genomic Alleles

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

Transcript Alleles

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