Canonical Allele Identifier: CA346755398

Linked Data

ClinVar Variation Id: 455217
dbSNP Id: rs1553414094
gnomAD v4: 2-47800724-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800724C>T , CM000664.2:g.47800724C>T GRCh38
NC_000002.11:g.48027863C>T , CM000664.1:g.48027863C>T GRCh37
NC_000002.10:g.47881367C>T NCBI36
NG_007111.1:g.22578C>T , LRG_219:g.22578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2444C>T (MSH6) ENSP00000406248.2:p.Thr815Ile
ENST00000420813.6:c.2444C>T (MSH6) ENSP00000390382.2:p.Thr815Ile
ENST00000455383.6:c.2444C>T (MSH6) ENSP00000397484.2:p.Thr815Ile
ENST00000700004.2:c.2741C>T (MSH6) ENSP00000514752.2:p.Thr914Ile
ENST00000699999.1:n.2825C>T (MSH6)
ENST00000700000.1:c.1606+1135C>T (MSH6) ENSP00000514749.1:n.1606+1135C>T
ENST00000700002.1:c.2747C>T (MSH6) ENSP00000514750.1:p.Thr916Ile
ENST00000700003.1:c.628-2696C>T (MSH6) ENSP00000514751.1:n.628-2696C>T
ENST00000700004.1:c.1898C>T (MSH6) ENSP00000514752.1:p.Thr633Ile
ENST00000234420.11:c.2741C>T (MSH6) MANE Select ENSP00000234420.5:p.Thr914Ile
ENST00000540021.6:c.2351C>T (MSH6) ENSP00000446475.1:p.Thr784Ile
ENST00000652107.1:c.2444C>T (MSH6) ENSP00000498629.1:p.Thr815Ile
ENST00000673637.1:c.2444C>T (MSH6) ENSP00000501310.1:p.Thr815Ile
ENST00000234420.9:c.2741C>T (MSH6) ENSP00000234420.4:p.Thr914Ile
ENST00000405808.5:c.169+7471G>A (FBXO11) ENSP00000385127.1:n.169+7471G>A
ENST00000434234.5:c.*124+7270G>A (FBXO11) ENSP00000402692.1:n.*124+7270G>A
ENST00000445503.5:c.*2088C>T (MSH6) ENSP00000405294.1:n.*2088C>T
ENST00000538136.1:c.1835C>T (MSH6) ENSP00000438580.1:p.Thr612Ile
ENST00000540021.5:c.2351C>T (MSH6) ENSP00000446475.1:p.Thr784Ile
ENST00000614496.4:c.1835C>T (MSH6) ENSP00000477844.1:p.Thr612Ile
ENST00000616033.4:c.2738C>T (MSH6) ENSP00000480261.1:p.Thr913Ile
ENST00000622629.4:c.-356C>T (MSH6) ENSP00000482078.1:n.-356C>T
NM_000179.2:c.2741C>T , LRG_219t1:c.2741C>T (MSH6) NP_000170.1:p.Thr914Ile
NM_001281492.1:c.2351C>T (MSH6) NP_001268421.1:p.Thr784Ile
NM_001281493.1:c.1835C>T (MSH6) NP_001268422.1:p.Thr612Ile
NM_001281494.1:c.1835C>T (MSH6) NP_001268423.1:p.Thr612Ile
XM_005264271.1:c.2444C>T (MSH6) XP_005264328.1:p.Thr815Ile
XM_011532798.1:c.2558C>T (MSH6) XP_011531100.1:p.Thr853Ile
XM_011532799.1:c.2444C>T (MSH6) XP_011531101.1:p.Thr815Ile
XM_011532800.1:c.2444C>T (MSH6) XP_011531102.1:p.Thr815Ile
XM_024452819.1:c.2741C>T (MSH6) XP_024308587.1:p.Thr914Ile
XM_024452820.1:c.2558C>T (MSH6) XP_024308588.1:p.Thr853Ile
XM_024452821.1:c.2444C>T (MSH6) XP_024308589.1:p.Thr815Ile
XM_024452822.1:c.1835C>T (MSH6) XP_024308590.1:p.Thr612Ile
NM_000179.3:c.2741C>T (MSH6) MANE Select NP_000170.1:p.Thr914Ile
NM_001281492.2:c.2351C>T (MSH6) NP_001268421.1:p.Thr784Ile
NM_001281493.2:c.1835C>T (MSH6) NP_001268422.1:p.Thr612Ile
NM_001281494.2:c.1835C>T (MSH6) NP_001268423.1:p.Thr612Ile