Canonical Allele Identifier: CA070809
Community Standard Title: NM_000179.3(MSH6):c.3430A>C (p.Met1144Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803677A>C , CM000664.2:g.47803677A>C GRCh38
NC_000002.11:g.48030816A>C , CM000664.1:g.48030816A>C GRCh37
NC_000002.10:g.47884320A>C NCBI36
NG_007111.1:g.25531A>C , LRG_219:g.25531A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000179.3:c.3430A>C (MSH6) MANE Select NP_000170.1:p.Met1144Leu
ENST00000234420.11:c.3430A>C (MSH6) MANE Select ENSP00000234420.5:p.Met1144Leu
NM_000179.2:c.3430A>C , LRG_219t1:c.3430A>C (MSH6) NP_000170.1:p.Met1144Leu
NM_001281492.1:c.3040A>C (MSH6) NP_001268421.1:p.Met1014Leu
NM_001281492.2:c.3040A>C (MSH6) NP_001268421.1:p.Met1014Leu
NM_001281493.1:c.2524A>C (MSH6) NP_001268422.1:p.Met842Leu
NM_001281493.2:c.2524A>C (MSH6) NP_001268422.1:p.Met842Leu
NM_001281494.1:c.2524A>C (MSH6) NP_001268423.1:p.Met842Leu
NM_001281494.2:c.2524A>C (MSH6) NP_001268423.1:p.Met842Leu
ENST00000234420.9:c.3430A>C (MSH6) ENSP00000234420.4:p.Met1144Leu
ENST00000405808.5:c.169+4518T>G (FBXO11) ENSP00000385127.1:n.169+4518T>G
ENST00000411819.2:c.3133A>C (MSH6) ENSP00000406248.2:p.Met1045Leu
ENST00000420813.6:c.3133A>C (MSH6) ENSP00000390382.2:p.Met1045Leu
ENST00000434234.5:c.*124+4317T>G (FBXO11) ENSP00000402692.1:n.*124+4317T>G
ENST00000445503.5:c.*2777A>C (MSH6) ENSP00000405294.1:n.*2777A>C
ENST00000455383.6:c.3133A>C (MSH6) ENSP00000397484.2:p.Met1045Leu
ENST00000538136.1:c.2524A>C (MSH6) ENSP00000438580.1:p.Met842Leu
ENST00000540021.5:c.3040A>C (MSH6) ENSP00000446475.1:p.Met1014Leu
ENST00000540021.6:c.3040A>C (MSH6) ENSP00000446475.1:p.Met1014Leu
ENST00000614496.4:c.2524A>C (MSH6) ENSP00000477844.1:p.Met842Leu
ENST00000622629.4:c.333A>C (MSH6) ENSP00000482078.1:p.Leu111Phe
ENST00000652107.1:c.3133A>C (MSH6) ENSP00000498629.1:p.Met1045Leu
ENST00000673637.1:c.3133A>C (MSH6) ENSP00000501310.1:p.Met1045Leu
ENST00000699999.1:n.3514A>C (MSH6)
ENST00000700000.1:c.1864A>C (MSH6) ENSP00000514749.1:p.Met622Leu
ENST00000700002.1:c.3436A>C (MSH6) ENSP00000514750.1:p.Met1146Leu
ENST00000700003.1:c.885A>C (MSH6) ENSP00000514751.1:n.885A>C
ENST00000700004.1:c.2330-1941A>C (MSH6) ENSP00000514752.1:n.2330-1941A>C
ENST00000700004.2:c.3173-1941A>C (MSH6) ENSP00000514752.2:n.3173-1941A>C
ENST00000700005.1:n.2281A>C (MSH6)
ENST00000700006.1:n.2278A>C (MSH6)
ENST00000700007.1:n.1435A>C (MSH6)
ENST00000700008.1:n.1009A>C (MSH6)
ENST00000700009.1:n.1008A>C (MSH6)
ENST00000700010.1:n.839A>C (MSH6)
ENST00000700011.1:n.910A>C (MSH6)
XM_005264271.1:c.3133A>C (MSH6) XP_005264328.1:p.Met1045Leu
XM_011532798.1:c.3247A>C (MSH6) XP_011531100.1:p.Met1083Leu
XM_011532799.1:c.3133A>C (MSH6) XP_011531101.1:p.Met1045Leu
XM_011532800.1:c.3133A>C (MSH6) XP_011531102.1:p.Met1045Leu
XM_024452819.1:c.3430A>C (MSH6) XP_024308587.1:p.Met1144Leu
XM_024452820.1:c.3247A>C (MSH6) XP_024308588.1:p.Met1083Leu
XM_024452821.1:c.3133A>C (MSH6) XP_024308589.1:p.Met1045Leu
XM_024452822.1:c.2524A>C (MSH6) XP_024308590.1:p.Met842Leu