Canonical Allele Identifier: CA346761012

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806275A>C , CM000664.2:g.47806275A>C GRCh38
NC_000002.11:g.48033414A>C , CM000664.1:g.48033414A>C GRCh37
NC_000002.10:g.47886918A>C NCBI36
NG_007111.1:g.28129A>C , LRG_219:g.28129A>C
NG_008397.1:g.104401T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3421A>C (MSH6) ENSP00000406248.2:p.Lys1141Gln
ENST00000420813.6:c.3421A>C (MSH6) ENSP00000390382.2:p.Lys1141Gln
ENST00000455383.6:c.3421A>C (MSH6) ENSP00000397484.2:p.Lys1141Gln
ENST00000700004.2:c.3334A>C (MSH6) ENSP00000514752.2:p.Lys1112Gln
ENST00000699999.1:n.4392A>C (MSH6)
ENST00000700000.1:c.2152A>C (MSH6) ENSP00000514749.1:p.Lys718Gln
ENST00000700002.1:c.3724A>C (MSH6) ENSP00000514750.1:p.Lys1242Gln
ENST00000700003.1:c.1173A>C (MSH6) ENSP00000514751.1:n.1173A>C
ENST00000700004.1:c.2491A>C (MSH6) ENSP00000514752.1:p.Lys831Gln
ENST00000700005.1:n.2569A>C (MSH6)
ENST00000700006.1:n.4876A>C (MSH6)
ENST00000700007.1:n.2313A>C (MSH6)
ENST00000700008.1:n.1887A>C (MSH6)
ENST00000700009.1:n.2382A>C (MSH6)
ENST00000700010.1:n.1127A>C (MSH6)
ENST00000700011.1:n.3012A>C (MSH6)
ENST00000682451.1:n.4473T>G (FBXO11)
ENST00000684712.1:n.4735T>G (FBXO11)
ENST00000234420.11:c.3718A>C (MSH6) MANE Select ENSP00000234420.5:p.Lys1240Gln
ENST00000540021.6:c.3328A>C (MSH6) ENSP00000446475.1:p.Lys1110Gln
ENST00000652107.1:c.3421A>C (MSH6) ENSP00000498629.1:p.Lys1141Gln
ENST00000673637.1:c.3421A>C (MSH6) ENSP00000501310.1:p.Lys1141Gln
ENST00000234420.9:c.3718A>C (MSH6) ENSP00000234420.4:p.Lys1240Gln
ENST00000405808.5:c.169+1920T>G (FBXO11) ENSP00000385127.1:n.169+1920T>G
ENST00000434234.5:c.*124+1719T>G (FBXO11) ENSP00000402692.1:n.*124+1719T>G
ENST00000445503.5:c.*3065A>C (MSH6) ENSP00000405294.1:n.*3065A>C
ENST00000538136.1:c.2812A>C (MSH6) ENSP00000438580.1:p.Lys938Gln
ENST00000540021.5:c.3328A>C (MSH6) ENSP00000446475.1:p.Lys1110Gln
ENST00000614496.4:c.2812A>C (MSH6) ENSP00000477844.1:p.Lys938Gln
ENST00000622629.4:c.622A>C (MSH6) ENSP00000482078.1:p.Lys208Gln
NM_000179.2:c.3718A>C , LRG_219t1:c.3718A>C (MSH6) NP_000170.1:p.Lys1240Gln
NM_001281492.1:c.3328A>C (MSH6) NP_001268421.1:p.Lys1110Gln
NM_001281493.1:c.2812A>C (MSH6) NP_001268422.1:p.Lys938Gln
NM_001281494.1:c.2812A>C (MSH6) NP_001268423.1:p.Lys938Gln
XM_005264271.1:c.3421A>C (MSH6) XP_005264328.1:p.Lys1141Gln
XM_011532798.1:c.3535A>C (MSH6) XP_011531100.1:p.Lys1179Gln
XM_011532799.1:c.3421A>C (MSH6) XP_011531101.1:p.Lys1141Gln
XM_011532800.1:c.3421A>C (MSH6) XP_011531102.1:p.Lys1141Gln
XM_024452819.1:c.3718A>C (MSH6) XP_024308587.1:p.Lys1240Gln
XM_024452820.1:c.3535A>C (MSH6) XP_024308588.1:p.Lys1179Gln
XM_024452821.1:c.3421A>C (MSH6) XP_024308589.1:p.Lys1141Gln
XM_024452822.1:c.2812A>C (MSH6) XP_024308590.1:p.Lys938Gln
NM_000179.3:c.3718A>C (MSH6) MANE Select NP_000170.1:p.Lys1240Gln
NM_001281492.2:c.3328A>C (MSH6) NP_001268421.1:p.Lys1110Gln
NM_001281493.2:c.2812A>C (MSH6) NP_001268422.1:p.Lys938Gln
NM_001281494.2:c.2812A>C (MSH6) NP_001268423.1:p.Lys938Gln