Canonical Allele Identifier: CA071122

Linked Data

ClinVar Variation Id: 410425
dbSNP Id: rs748398941
gnomAD v2: 2-48032139-C-G
gnomAD v4: 2-47805000-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805000C>G , CM000664.2:g.47805000C>G GRCh38
NC_000002.11:g.48032139C>G , CM000664.1:g.48032139C>G GRCh37
NC_000002.10:g.47885643C>G NCBI36
NG_007111.1:g.26854C>G , LRG_219:g.26854C>G
NG_008397.1:g.105676G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3232C>G (MSH6) ENSP00000406248.2:p.Leu1078Val
ENST00000420813.6:c.3232C>G (MSH6) ENSP00000390382.2:p.Leu1078Val
ENST00000455383.6:c.3232C>G (MSH6) ENSP00000397484.2:p.Leu1078Val
ENST00000700004.2:c.3173-618C>G (MSH6) ENSP00000514752.2:n.3173-618C>G
ENST00000699999.1:n.3613C>G (MSH6)
ENST00000700000.1:c.1963C>G (MSH6) ENSP00000514749.1:p.Leu655Val
ENST00000700002.1:c.3535C>G (MSH6) ENSP00000514750.1:p.Leu1179Val
ENST00000700003.1:c.984C>G (MSH6) ENSP00000514751.1:n.984C>G
ENST00000700004.1:c.2330-618C>G (MSH6) ENSP00000514752.1:n.2330-618C>G
ENST00000700005.1:n.2380C>G (MSH6)
ENST00000700006.1:n.3601C>G (MSH6)
ENST00000700007.1:n.1534C>G (MSH6)
ENST00000700008.1:n.1108C>G (MSH6)
ENST00000700009.1:n.1107C>G (MSH6)
ENST00000700010.1:n.938C>G (MSH6)
ENST00000700011.1:n.2233C>G (MSH6)
ENST00000234420.11:c.3529C>G (MSH6) MANE Select ENSP00000234420.5:p.Leu1177Val
ENST00000540021.6:c.3139C>G (MSH6) ENSP00000446475.1:p.Leu1047Val
ENST00000652107.1:c.3232C>G (MSH6) ENSP00000498629.1:p.Leu1078Val
ENST00000673637.1:c.3232C>G (MSH6) ENSP00000501310.1:p.Leu1078Val
ENST00000234420.9:c.3529C>G (MSH6) ENSP00000234420.4:p.Leu1177Val
ENST00000405808.5:c.169+3195G>C (FBXO11) ENSP00000385127.1:n.169+3195G>C
ENST00000434234.5:c.*124+2994G>C (FBXO11) ENSP00000402692.1:n.*124+2994G>C
ENST00000445503.5:c.*2876C>G (MSH6) ENSP00000405294.1:n.*2876C>G
ENST00000538136.1:c.2623C>G (MSH6) ENSP00000438580.1:p.Leu875Val
ENST00000540021.5:c.3139C>G (MSH6) ENSP00000446475.1:p.Leu1047Val
ENST00000614496.4:c.2623C>G (MSH6) ENSP00000477844.1:p.Leu875Val
ENST00000622629.4:c.433C>G (MSH6) ENSP00000482078.1:p.Leu145Val
NM_000179.2:c.3529C>G , LRG_219t1:c.3529C>G (MSH6) NP_000170.1:p.Leu1177Val
NM_001281492.1:c.3139C>G (MSH6) NP_001268421.1:p.Leu1047Val
NM_001281493.1:c.2623C>G (MSH6) NP_001268422.1:p.Leu875Val
NM_001281494.1:c.2623C>G (MSH6) NP_001268423.1:p.Leu875Val
XM_005264271.1:c.3232C>G (MSH6) XP_005264328.1:p.Leu1078Val
XM_011532798.1:c.3346C>G (MSH6) XP_011531100.1:p.Leu1116Val
XM_011532799.1:c.3232C>G (MSH6) XP_011531101.1:p.Leu1078Val
XM_011532800.1:c.3232C>G (MSH6) XP_011531102.1:p.Leu1078Val
XM_024452819.1:c.3529C>G (MSH6) XP_024308587.1:p.Leu1177Val
XM_024452820.1:c.3346C>G (MSH6) XP_024308588.1:p.Leu1116Val
XM_024452821.1:c.3232C>G (MSH6) XP_024308589.1:p.Leu1078Val
XM_024452822.1:c.2623C>G (MSH6) XP_024308590.1:p.Leu875Val
NM_000179.3:c.3529C>G (MSH6) MANE Select NP_000170.1:p.Leu1177Val
NM_001281492.2:c.3139C>G (MSH6) NP_001268421.1:p.Leu1047Val
NM_001281493.2:c.2623C>G (MSH6) NP_001268422.1:p.Leu875Val
NM_001281494.2:c.2623C>G (MSH6) NP_001268423.1:p.Leu875Val