Canonical Allele Identifier: CA403985660

Gene: KEAP1

Linked Data

• MyVariant Identifiers: chr19:g.10600368T>G (hg19) ; chr19:g.10489692T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10489692T>G , CM000681.2:g.10489692T>G	GRCh38
NC_000019.9:g.10600368T>G , CM000681.1:g.10600368T>G	GRCh37
NC_000019.8:g.10461368T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000171111.10:c.1487A>C MANE Select	ENSP00000171111.4:p.Glu496Ala
ENST00000171111.9:c.1487A>C	ENSP00000171111.4:p.Glu496Ala
ENST00000393623.6:c.1487A>C	ENSP00000377245.1:p.Glu496Ala
ENST00000590593.1:c.305-324A>C
ENST00000592478.5:c.306A>C
NM_012289.3:c.1487A>C	NP_036421.2:p.Glu496Ala
NM_203500.1:c.1487A>C	NP_987096.1:p.Glu496Ala
XM_005260173.1:c.1487A>C	XP_005260230.1:p.Glu496Ala
XM_005260174.1:c.1487A>C	XP_005260231.1:p.Glu496Ala
XM_011528452.1:c.1487A>C	XP_011526754.1:p.Glu496Ala
NM_203500.2:c.1487A>C MANE Select	NP_987096.1:p.Glu496Ala
NM_012289.4:c.1487A>C	NP_036421.2:p.Glu496Ala