Canonical Allele Identifier: CA370106909
Community Standard Title: NM_170606.3(KMT2C):c.9559A>C (p.Thr3187Pro)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152167337T>G , CM000669.2:g.152167337T>G GRCh38
NC_000007.13:g.151864422T>G , CM000669.1:g.151864422T>G GRCh37
NC_000007.12:g.151495355T>G NCBI36
NG_033948.1:g.273669A>C

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.9559A>C MANE Select NP_733751.2:p.Thr3187Pro
ENST00000262189.11:c.9559A>C MANE Select ENSP00000262189.6:p.Thr3187Pro
NM_170606.2:c.9559A>C NP_733751.2:p.Thr3187Pro
ENST00000262189.10:c.9559A>C ENSP00000262189.6:p.Thr3187Pro
ENST00000355193.6:c.9559A>C ENSP00000347325.3:p.Thr3187Pro
ENST00000360104.7:c.2075A>C
ENST00000360104.8:c.5181A>C
ENST00000418061.2:c.42A>C
ENST00000424877.6:c.42A>C
ENST00000473186.5:n.7270A>C
ENST00000558084.5:c.*7079A>C ENSP00000453752.1:n.*7079A>C
ENST00000679393.1:n.3050A>C
ENST00000679560.1:c.4294A>C ENSP00000505094.1:p.Thr1432Pro
ENST00000679882.1:c.9334A>C ENSP00000506154.1:p.Thr3112Pro
ENST00000680029.1:c.42A>C
ENST00000680877.1:c.4294A>C ENSP00000505724.1:p.Thr1432Pro
ENST00000680969.1:c.6955A>C ENSP00000505951.1:p.Thr2319Pro
ENST00000682283.1:c.9559A>C ENSP00000507485.1:p.Thr3187Pro
ENST00000683120.1:n.1545A>C
ENST00000683178.1:c.42A>C
ENST00000683200.1:c.6907A>C ENSP00000508052.1:p.Thr2303Pro
ENST00000683397.1:c.4317A>C ENSP00000507053.1:p.Arg1439Ser
ENST00000683502.1:c.42A>C
ENST00000683625.1:c.4294A>C ENSP00000507769.1:p.Thr1432Pro
ENST00000683670.1:c.4294A>C ENSP00000507634.1:p.Thr1432Pro
ENST00000684261.1:c.4294A>C ENSP00000508097.1:p.Thr1432Pro
ENST00000684307.1:c.4230A>C ENSP00000507202.1:p.Arg1410Ser
ENST00000684398.1:c.4294A>C ENSP00000507254.1:p.Thr1432Pro
ENST00000684649.1:c.42A>C
XM_005250025.3:c.9610A>C XP_005250082.1:p.Thr3204Pro
XM_005250025.4:c.9610A>C XP_005250082.1:p.Thr3204Pro
XM_005250026.2:c.9607A>C XP_005250083.1:p.Thr3203Pro
XM_005250026.3:c.9607A>C XP_005250083.1:p.Thr3203Pro
XM_005250027.3:c.9610A>C XP_005250084.1:p.Thr3204Pro
XM_005250027.4:c.9610A>C XP_005250084.1:p.Thr3204Pro
XM_005250028.3:c.9610A>C XP_005250085.1:p.Thr3204Pro
XM_005250028.4:c.9610A>C XP_005250085.1:p.Thr3204Pro
XM_005250031.3:c.9610A>C XP_005250088.1:p.Thr3204Pro
XM_005250031.4:c.9610A>C XP_005250088.1:p.Thr3204Pro
XM_006716077.2:c.9610A>C XP_006716140.1:p.Thr3204Pro
XM_006716077.3:c.9610A>C XP_006716140.1:p.Thr3204Pro
XM_006716078.2:c.9610A>C XP_006716141.1:p.Thr3204Pro
XM_006716078.3:c.9610A>C XP_006716141.1:p.Thr3204Pro
XM_006716079.2:c.9610A>C XP_006716142.1:p.Thr3204Pro
XM_006716079.3:c.9610A>C XP_006716142.1:p.Thr3204Pro
XM_011516450.1:c.9562A>C XP_011514752.1:p.Thr3188Pro
XM_011516450.2:c.9562A>C XP_011514752.1:p.Thr3188Pro
XM_011516451.1:c.9490A>C XP_011514753.1:p.Thr3164Pro
XM_011516451.2:c.9490A>C XP_011514753.1:p.Thr3164Pro
XM_011516452.1:c.9457A>C XP_011514754.1:p.Thr3153Pro
XM_011516452.2:c.9457A>C XP_011514754.1:p.Thr3153Pro
XM_011516453.1:c.9610A>C XP_011514755.1:p.Thr3204Pro
XM_011516453.2:c.9610A>C XP_011514755.1:p.Thr3204Pro
XM_011516454.1:c.8695A>C XP_011514756.1:p.Thr2899Pro
XM_011516454.2:c.8695A>C XP_011514756.1:p.Thr2899Pro
XM_011516455.1:c.7156A>C XP_011514757.1:p.Thr2386Pro
XM_011516456.1:c.9562A>C XP_011514758.1:p.Thr3188Pro
XM_011516456.2:c.9562A>C XP_011514758.1:p.Thr3188Pro
XM_017012480.1:c.9610A>C XP_016867969.1:p.Thr3204Pro
XM_017012481.1:c.9607A>C XP_016867970.1:p.Thr3203Pro
XM_017012482.1:c.9610A>C XP_016867971.1:p.Thr3204Pro
XM_017012483.1:c.9610A>C XP_016867972.1:p.Thr3204Pro
XM_017012484.1:c.9577A>C XP_016867973.1:p.Thr3193Pro
XM_017012485.1:c.9559A>C XP_016867974.1:p.Thr3187Pro
XM_017012486.1:c.9610A>C XP_016867975.1:p.Thr3204Pro
XM_017012487.1:c.9463A>C XP_016867976.1:p.Thr3155Pro
XM_017012488.1:c.9427A>C XP_016867977.1:p.Thr3143Pro
XM_017012489.1:c.6280A>C XP_016867978.1:p.Thr2094Pro
XM_017012490.2:c.5884A>C XP_016867979.1:p.Thr1962Pro
XM_024446852.1:c.9607A>C XP_024302620.1:p.Thr3203Pro
XM_024446853.1:c.9610A>C XP_024302621.1:p.Thr3204Pro
XR_428183.2:n.9818A>C
XR_428183.3:n.9842A>C