Canonical Allele Identifier: CA346760026

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804929T>G , CM000664.2:g.47804929T>G GRCh38
NC_000002.11:g.48032068T>G , CM000664.1:g.48032068T>G GRCh37
NC_000002.10:g.47885572T>G NCBI36
NG_007111.1:g.26783T>G , LRG_219:g.26783T>G
NG_008397.1:g.105747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3161T>G (MSH6) ENSP00000406248.2:p.Met1054Arg
ENST00000420813.6:c.3161T>G (MSH6) ENSP00000390382.2:p.Met1054Arg
ENST00000455383.6:c.3161T>G (MSH6) ENSP00000397484.2:p.Met1054Arg
ENST00000700004.2:c.3173-689T>G (MSH6) ENSP00000514752.2:n.3173-689T>G
ENST00000699999.1:n.3542T>G (MSH6)
ENST00000700000.1:c.1892T>G (MSH6) ENSP00000514749.1:p.Met631Arg
ENST00000700002.1:c.3464T>G (MSH6) ENSP00000514750.1:p.Met1155Arg
ENST00000700003.1:c.913T>G (MSH6) ENSP00000514751.1:n.913T>G
ENST00000700004.1:c.2330-689T>G (MSH6) ENSP00000514752.1:n.2330-689T>G
ENST00000700005.1:n.2309T>G (MSH6)
ENST00000700006.1:n.3530T>G (MSH6)
ENST00000700007.1:n.1463T>G (MSH6)
ENST00000700008.1:n.1037T>G (MSH6)
ENST00000700009.1:n.1036T>G (MSH6)
ENST00000700010.1:n.867T>G (MSH6)
ENST00000700011.1:n.2162T>G (MSH6)
ENST00000234420.11:c.3458T>G (MSH6) MANE Select ENSP00000234420.5:p.Met1153Arg
ENST00000540021.6:c.3068T>G (MSH6) ENSP00000446475.1:p.Met1023Arg
ENST00000652107.1:c.3161T>G (MSH6) ENSP00000498629.1:p.Met1054Arg
ENST00000673637.1:c.3161T>G (MSH6) ENSP00000501310.1:p.Met1054Arg
ENST00000234420.9:c.3458T>G (MSH6) ENSP00000234420.4:p.Met1153Arg
ENST00000405808.5:c.169+3266A>C (FBXO11) ENSP00000385127.1:n.169+3266A>C
ENST00000434234.5:c.*124+3065A>C (FBXO11) ENSP00000402692.1:n.*124+3065A>C
ENST00000445503.5:c.*2805T>G (MSH6) ENSP00000405294.1:n.*2805T>G
ENST00000538136.1:c.2552T>G (MSH6) ENSP00000438580.1:p.Met851Arg
ENST00000540021.5:c.3068T>G (MSH6) ENSP00000446475.1:p.Met1023Arg
ENST00000614496.4:c.2552T>G (MSH6) ENSP00000477844.1:p.Met851Arg
ENST00000622629.4:c.362T>G (MSH6) ENSP00000482078.1:p.Met121Arg
NM_000179.2:c.3458T>G , LRG_219t1:c.3458T>G (MSH6) NP_000170.1:p.Met1153Arg
NM_001281492.1:c.3068T>G (MSH6) NP_001268421.1:p.Met1023Arg
NM_001281493.1:c.2552T>G (MSH6) NP_001268422.1:p.Met851Arg
NM_001281494.1:c.2552T>G (MSH6) NP_001268423.1:p.Met851Arg
XM_005264271.1:c.3161T>G (MSH6) XP_005264328.1:p.Met1054Arg
XM_011532798.1:c.3275T>G (MSH6) XP_011531100.1:p.Met1092Arg
XM_011532799.1:c.3161T>G (MSH6) XP_011531101.1:p.Met1054Arg
XM_011532800.1:c.3161T>G (MSH6) XP_011531102.1:p.Met1054Arg
XM_024452819.1:c.3458T>G (MSH6) XP_024308587.1:p.Met1153Arg
XM_024452820.1:c.3275T>G (MSH6) XP_024308588.1:p.Met1092Arg
XM_024452821.1:c.3161T>G (MSH6) XP_024308589.1:p.Met1054Arg
XM_024452822.1:c.2552T>G (MSH6) XP_024308590.1:p.Met851Arg
NM_000179.3:c.3458T>G (MSH6) MANE Select NP_000170.1:p.Met1153Arg
NM_001281492.2:c.3068T>G (MSH6) NP_001268421.1:p.Met1023Arg
NM_001281493.2:c.2552T>G (MSH6) NP_001268422.1:p.Met851Arg
NM_001281494.2:c.2552T>G (MSH6) NP_001268423.1:p.Met851Arg