Canonical Allele Identifier: CA505383410
Gene: KEAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144589445
MyVariant Identifiers: chr19:g.10600343G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10489667G>A , CM000681.2:g.10489667G>A GRCh38
NC_000019.9:g.10600343G>A , CM000681.1:g.10600343G>A GRCh37
NC_000019.8:g.10461343G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000171111.10:c.1512C>T MANE Select ENSP00000171111.4:p.Asn504=
ENST00000171111.9:c.1512C>T ENSP00000171111.4:p.Asn504=
ENST00000393623.6:c.1512C>T ENSP00000377245.1:p.Asn504=
ENST00000590593.1:c.305-299C>T
ENST00000592478.5:c.331C>T
NM_012289.3:c.1512C>T NP_036421.2:p.Asn504=
NM_203500.1:c.1512C>T NP_987096.1:p.Asn504=
XM_005260173.1:c.1512C>T XP_005260230.1:p.Asn504=
XM_005260174.1:c.1512C>T XP_005260231.1:p.Asn504=
XM_011528452.1:c.1512C>T XP_011526754.1:p.Asn504=
NM_203500.2:c.1512C>T MANE Select NP_987096.1:p.Asn504=
NM_012289.4:c.1512C>T NP_036421.2:p.Asn504=