Canonical Allele Identifier: CA346750632

Linked Data

ClinVar Variation Id: 998688
dbSNP Id: rs1060502935
gnomAD v4: 2-47799967-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799967A>T , CM000664.2:g.47799967A>T GRCh38
NC_000002.11:g.48027106A>T , CM000664.1:g.48027106A>T GRCh37
NC_000002.10:g.47880610A>T NCBI36
NG_007111.1:g.21821A>T , LRG_219:g.21821A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.1687A>T (MSH6) ENSP00000406248.2:p.Met563Leu
ENST00000420813.6:c.1687A>T (MSH6) ENSP00000390382.2:p.Met563Leu
ENST00000455383.6:c.1687A>T (MSH6) ENSP00000397484.2:p.Met563Leu
ENST00000700004.2:c.1984A>T (MSH6) ENSP00000514752.2:p.Met662Leu
ENST00000699999.1:n.2068A>T (MSH6)
ENST00000700000.1:c.1606+378A>T (MSH6) ENSP00000514749.1:n.1606+378A>T
ENST00000700002.1:c.1990A>T (MSH6) ENSP00000514750.1:p.Met664Leu
ENST00000700003.1:c.628-3453A>T (MSH6) ENSP00000514751.1:n.628-3453A>T
ENST00000700004.1:c.1141A>T (MSH6) ENSP00000514752.1:p.Met381Leu
ENST00000234420.11:c.1984A>T (MSH6) MANE Select ENSP00000234420.5:p.Met662Leu
ENST00000540021.6:c.1594A>T (MSH6) ENSP00000446475.1:p.Met532Leu
ENST00000652107.1:c.1687A>T (MSH6) ENSP00000498629.1:p.Met563Leu
ENST00000673637.1:c.1687A>T (MSH6) ENSP00000501310.1:p.Met563Leu
ENST00000234420.9:c.1984A>T (MSH6) ENSP00000234420.4:p.Met662Leu
ENST00000405808.5:c.169+8228T>A (FBXO11) ENSP00000385127.1:n.169+8228T>A
ENST00000434234.5:c.*124+8027T>A (FBXO11) ENSP00000402692.1:n.*124+8027T>A
ENST00000445503.5:c.*1331A>T (MSH6) ENSP00000405294.1:n.*1331A>T
ENST00000538136.1:c.1078A>T (MSH6) ENSP00000438580.1:p.Met360Leu
ENST00000540021.5:c.1594A>T (MSH6) ENSP00000446475.1:p.Met532Leu
ENST00000614496.4:c.1078A>T (MSH6) ENSP00000477844.1:p.Met360Leu
ENST00000616033.4:c.1981A>T (MSH6) ENSP00000480261.1:p.Met661Leu
ENST00000622629.4:c.-1113A>T (MSH6) ENSP00000482078.1:n.-1113A>T
NM_000179.2:c.1984A>T , LRG_219t1:c.1984A>T (MSH6) NP_000170.1:p.Met662Leu
NM_001281492.1:c.1594A>T (MSH6) NP_001268421.1:p.Met532Leu
NM_001281493.1:c.1078A>T (MSH6) NP_001268422.1:p.Met360Leu
NM_001281494.1:c.1078A>T (MSH6) NP_001268423.1:p.Met360Leu
XM_005264271.1:c.1687A>T (MSH6) XP_005264328.1:p.Met563Leu
XM_011532798.1:c.1801A>T (MSH6) XP_011531100.1:p.Met601Leu
XM_011532799.1:c.1687A>T (MSH6) XP_011531101.1:p.Met563Leu
XM_011532800.1:c.1687A>T (MSH6) XP_011531102.1:p.Met563Leu
XM_024452819.1:c.1984A>T (MSH6) XP_024308587.1:p.Met662Leu
XM_024452820.1:c.1801A>T (MSH6) XP_024308588.1:p.Met601Leu
XM_024452821.1:c.1687A>T (MSH6) XP_024308589.1:p.Met563Leu
XM_024452822.1:c.1078A>T (MSH6) XP_024308590.1:p.Met360Leu
NM_000179.3:c.1984A>T (MSH6) MANE Select NP_000170.1:p.Met662Leu
NM_001281492.2:c.1594A>T (MSH6) NP_001268421.1:p.Met532Leu
NM_001281493.2:c.1078A>T (MSH6) NP_001268422.1:p.Met360Leu
NM_001281494.2:c.1078A>T (MSH6) NP_001268423.1:p.Met360Leu