Canonical Allele Identifier: CA2496054241

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806357T= , CM000664.2:g.47806357T= GRCh38
NC_000002.11:g.48033496T= , CM000664.1:g.48033496T= GRCh37
NC_000002.10:g.47887000T= NCBI36
NG_007111.1:g.28211T= , LRG_219:g.28211T=
NG_008397.1:g.104319A=

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3503T= (MSH6) ENSP00000406248.2:p.Met1168=
ENST00000420813.6:c.3503T= (MSH6) ENSP00000390382.2:p.Met1168=
ENST00000455383.6:c.3503T= (MSH6) ENSP00000397484.2:p.Met1168=
ENST00000700004.2:c.3416T= (MSH6) ENSP00000514752.2:p.Met1139=
ENST00000699999.1:n.4474T= (MSH6)
ENST00000700000.1:c.2234T= (MSH6) ENSP00000514749.1:p.Met745=
ENST00000700002.1:c.3806T= (MSH6) ENSP00000514750.1:p.Met1269=
ENST00000700003.1:c.1255T= (MSH6) ENSP00000514751.1:n.1255T=
ENST00000700004.1:c.2573T= (MSH6) ENSP00000514752.1:p.Met858=
ENST00000700005.1:n.2651T= (MSH6)
ENST00000700006.1:n.4958T= (MSH6)
ENST00000700007.1:n.2395T= (MSH6)
ENST00000700008.1:n.1969T= (MSH6)
ENST00000700009.1:n.2464T= (MSH6)
ENST00000700010.1:n.1209T= (MSH6)
ENST00000700011.1:n.3094T= (MSH6)
ENST00000682451.1:n.4391A= (FBXO11)
ENST00000684712.1:n.4653A= (FBXO11)
ENST00000234420.11:c.3800T= (MSH6) MANE Select ENSP00000234420.5:p.Met1267=
ENST00000540021.6:c.3410T= (MSH6) ENSP00000446475.1:p.Met1137=
ENST00000652107.1:c.3503T= (MSH6) ENSP00000498629.1:p.Met1168=
ENST00000673637.1:c.3503T= (MSH6) ENSP00000501310.1:p.Met1168=
ENST00000234420.9:c.3800T= (MSH6) ENSP00000234420.4:p.Met1267=
ENST00000405808.5:c.169+1838A= (FBXO11) ENSP00000385127.1:n.169+1838A=
ENST00000434234.5:c.*124+1637A= (FBXO11) ENSP00000402692.1:n.*124+1637A=
ENST00000445503.5:c.*3147T= (MSH6) ENSP00000405294.1:n.*3147T=
ENST00000538136.1:c.2894T= (MSH6) ENSP00000438580.1:p.Met965=
ENST00000540021.5:c.3410T= (MSH6) ENSP00000446475.1:p.Met1137=
ENST00000614496.4:c.2894T= (MSH6) ENSP00000477844.1:p.Met965=
ENST00000622629.4:c.701T= (MSH6) ENSP00000482078.1:p.Met234=
NM_000179.2:c.3800T= , LRG_219t1:c.3800T= (MSH6) NP_000170.1:p.Met1267=
NM_001281492.1:c.3410T= (MSH6) NP_001268421.1:p.Met1137=
NM_001281493.1:c.2894T= (MSH6) NP_001268422.1:p.Met965=
NM_001281494.1:c.2894T= (MSH6) NP_001268423.1:p.Met965=
XM_005264271.1:c.3503T= (MSH6) XP_005264328.1:p.Met1168=
XM_011532798.1:c.3617T= (MSH6) XP_011531100.1:p.Met1206=
XM_011532799.1:c.3503T= (MSH6) XP_011531101.1:p.Met1168=
XM_011532800.1:c.3503T= (MSH6) XP_011531102.1:p.Met1168=
XM_024452819.1:c.3800T= (MSH6) XP_024308587.1:p.Met1267=
XM_024452820.1:c.3617T= (MSH6) XP_024308588.1:p.Met1206=
XM_024452821.1:c.3503T= (MSH6) XP_024308589.1:p.Met1168=
XM_024452822.1:c.2894T= (MSH6) XP_024308590.1:p.Met965=
NM_000179.3:c.3800T= (MSH6) MANE Select NP_000170.1:p.Met1267=
NM_001281492.2:c.3410T= (MSH6) NP_001268421.1:p.Met1137=
NM_001281493.2:c.2894T= (MSH6) NP_001268422.1:p.Met965=
NM_001281494.2:c.2894T= (MSH6) NP_001268423.1:p.Met965=