Canonical Allele Identifier: CA071451

Linked Data

ClinVar Variation Id: 220745
dbSNP Id: rs781627838
gnomAD v2: 2-48032798-A-G
gnomAD v4: 2-47805659-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805659A>G , CM000664.2:g.47805659A>G GRCh38
NC_000002.11:g.48032798A>G , CM000664.1:g.48032798A>G GRCh37
NC_000002.10:g.47886302A>G NCBI36
NG_007111.1:g.27513A>G , LRG_219:g.27513A>G
NG_008397.1:g.105017T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3301A>G (MSH6) ENSP00000406248.2:p.Ile1101Val
ENST00000420813.6:c.3301A>G (MSH6) ENSP00000390382.2:p.Ile1101Val
ENST00000455383.6:c.3301A>G (MSH6) ENSP00000397484.2:p.Ile1101Val
ENST00000700004.2:c.3214A>G (MSH6) ENSP00000514752.2:p.Ile1072Val
ENST00000699999.1:n.4272A>G (MSH6)
ENST00000700000.1:c.2032A>G (MSH6) ENSP00000514749.1:p.Ile678Val
ENST00000700002.1:c.3604A>G (MSH6) ENSP00000514750.1:p.Ile1202Val
ENST00000700003.1:c.1053A>G (MSH6) ENSP00000514751.1:n.1053A>G
ENST00000700004.1:c.2371A>G (MSH6) ENSP00000514752.1:p.Ile791Val
ENST00000700005.1:n.2449A>G (MSH6)
ENST00000700006.1:n.4260A>G (MSH6)
ENST00000700007.1:n.2193A>G (MSH6)
ENST00000700008.1:n.1767A>G (MSH6)
ENST00000700009.1:n.1766A>G (MSH6)
ENST00000700010.1:n.1007A>G (MSH6)
ENST00000700011.1:n.2892A>G (MSH6)
ENST00000234420.11:c.3598A>G (MSH6) MANE Select ENSP00000234420.5:p.Ile1200Val
ENST00000540021.6:c.3208A>G (MSH6) ENSP00000446475.1:p.Ile1070Val
ENST00000652107.1:c.3301A>G (MSH6) ENSP00000498629.1:p.Ile1101Val
ENST00000673637.1:c.3301A>G (MSH6) ENSP00000501310.1:p.Ile1101Val
ENST00000234420.9:c.3598A>G (MSH6) ENSP00000234420.4:p.Ile1200Val
ENST00000405808.5:c.169+2536T>C (FBXO11) ENSP00000385127.1:n.169+2536T>C
ENST00000434234.5:c.*124+2335T>C (FBXO11) ENSP00000402692.1:n.*124+2335T>C
ENST00000445503.5:c.*2945A>G (MSH6) ENSP00000405294.1:n.*2945A>G
ENST00000538136.1:c.2692A>G (MSH6) ENSP00000438580.1:p.Ile898Val
ENST00000540021.5:c.3208A>G (MSH6) ENSP00000446475.1:p.Ile1070Val
ENST00000614496.4:c.2692A>G (MSH6) ENSP00000477844.1:p.Ile898Val
ENST00000622629.4:c.502A>G (MSH6) ENSP00000482078.1:p.Ile168Val
NM_000179.2:c.3598A>G , LRG_219t1:c.3598A>G (MSH6) NP_000170.1:p.Ile1200Val
NM_001281492.1:c.3208A>G (MSH6) NP_001268421.1:p.Ile1070Val
NM_001281493.1:c.2692A>G (MSH6) NP_001268422.1:p.Ile898Val
NM_001281494.1:c.2692A>G (MSH6) NP_001268423.1:p.Ile898Val
XM_005264271.1:c.3301A>G (MSH6) XP_005264328.1:p.Ile1101Val
XM_011532798.1:c.3415A>G (MSH6) XP_011531100.1:p.Ile1139Val
XM_011532799.1:c.3301A>G (MSH6) XP_011531101.1:p.Ile1101Val
XM_011532800.1:c.3301A>G (MSH6) XP_011531102.1:p.Ile1101Val
XM_024452819.1:c.3598A>G (MSH6) XP_024308587.1:p.Ile1200Val
XM_024452820.1:c.3415A>G (MSH6) XP_024308588.1:p.Ile1139Val
XM_024452821.1:c.3301A>G (MSH6) XP_024308589.1:p.Ile1101Val
XM_024452822.1:c.2692A>G (MSH6) XP_024308590.1:p.Ile898Val
NM_000179.3:c.3598A>G (MSH6) MANE Select NP_000170.1:p.Ile1200Val
NM_001281492.2:c.3208A>G (MSH6) NP_001268421.1:p.Ile1070Val
NM_001281493.2:c.2692A>G (MSH6) NP_001268422.1:p.Ile898Val
NM_001281494.2:c.2692A>G (MSH6) NP_001268423.1:p.Ile898Val