Canonical Allele Identifier: CA503982143
Gene: SETBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.42531918T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.44951953T>C , CM000680.2:g.44951953T>C GRCh38
NC_000018.9:g.42531918T>C , CM000680.1:g.42531918T>C GRCh37
NC_000018.8:g.40785916T>C NCBI36
NG_027527.1:g.276781T>C
NG_027527.2:g.276781T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649279.2:c.2613T>C MANE Select ENSP00000497406.1:p.Ile871=
ENST00000677068.1:c.2613T>C ENSP00000504398.1:p.Ile871=
ENST00000677077.1:c.2613T>C ENSP00000503656.1:p.Ile871=
ENST00000677130.1:c.2613T>C ENSP00000503094.1:p.Ile871=
ENST00000677699.1:c.2613T>C ENSP00000503964.1:p.Ile871=
ENST00000678152.1:c.2613T>C ENSP00000502995.1:p.Ile871=
ENST00000282030.5:c.2613T>C ENSP00000282030.5:p.Ile871=
NM_015559.2:c.2613T>C NP_056374.2:p.Ile871=
XM_005258243.3:c.2613T>C XP_005258300.1:p.Ile871=
NM_015559.3:c.2613T>C MANE Select NP_056374.2:p.Ile871=
XM_024451149.1:c.2691T>C XP_024306917.1:p.Ile897=
XM_024451150.1:c.2691T>C XP_024306918.1:p.Ile897=
XM_024451151.1:c.2691T>C XP_024306919.1:p.Ile897=
XM_024451152.1:c.2691T>C XP_024306920.1:p.Ile897=
XM_024451153.1:c.2613T>C XP_024306921.1:p.Ile871=
XM_024451154.1:c.2613T>C XP_024306922.1:p.Ile871=
XM_024451155.1:c.2613T>C XP_024306923.1:p.Ile871=
XM_024451156.1:c.2691T>C XP_024306924.1:p.Ile897=
XM_024451157.1:c.2136T>C XP_024306925.1:p.Ile712=
XM_024451158.1:c.2691T>C XP_024306926.1:p.Ile897=
NM_001379141.1:c.2613T>C NP_001366070.1:p.Ile871=
NM_001379142.1:c.2613T>C NP_001366071.1:p.Ile871=