Canonical Allele Identifier: CA10578141

Linked Data

ClinVar Variation Id: 233242
dbSNP Id: rs876660283
gnomAD v2: 2-48030803-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803664C>T , CM000664.2:g.47803664C>T GRCh38
NC_000002.11:g.48030803C>T , CM000664.1:g.48030803C>T GRCh37
NC_000002.10:g.47884307C>T NCBI36
NG_007111.1:g.25518C>T , LRG_219:g.25518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3120C>T (MSH6) ENSP00000406248.2:p.Gly1040=
ENST00000420813.6:c.3120C>T (MSH6) ENSP00000390382.2:p.Gly1040=
ENST00000455383.6:c.3120C>T (MSH6) ENSP00000397484.2:p.Gly1040=
ENST00000700004.2:c.3173-1954C>T (MSH6) ENSP00000514752.2:n.3173-1954C>T
ENST00000699999.1:n.3501C>T (MSH6)
ENST00000700000.1:c.1851C>T (MSH6) ENSP00000514749.1:p.Gly617=
ENST00000700002.1:c.3423C>T (MSH6) ENSP00000514750.1:p.Gly1141=
ENST00000700003.1:c.872C>T (MSH6) ENSP00000514751.1:n.872C>T
ENST00000700004.1:c.2330-1954C>T (MSH6) ENSP00000514752.1:n.2330-1954C>T
ENST00000700005.1:n.2268C>T (MSH6)
ENST00000700006.1:n.2265C>T (MSH6)
ENST00000700007.1:n.1422C>T (MSH6)
ENST00000700008.1:n.996C>T (MSH6)
ENST00000700009.1:n.995C>T (MSH6)
ENST00000700010.1:n.826C>T (MSH6)
ENST00000700011.1:n.897C>T (MSH6)
ENST00000234420.11:c.3417C>T (MSH6) MANE Select ENSP00000234420.5:p.Gly1139=
ENST00000540021.6:c.3027C>T (MSH6) ENSP00000446475.1:p.Gly1009=
ENST00000652107.1:c.3120C>T (MSH6) ENSP00000498629.1:p.Gly1040=
ENST00000673637.1:c.3120C>T (MSH6) ENSP00000501310.1:p.Gly1040=
ENST00000234420.9:c.3417C>T (MSH6) ENSP00000234420.4:p.Gly1139=
ENST00000405808.5:c.169+4531G>A (FBXO11) ENSP00000385127.1:n.169+4531G>A
ENST00000434234.5:c.*124+4330G>A (FBXO11) ENSP00000402692.1:n.*124+4330G>A
ENST00000445503.5:c.*2764C>T (MSH6) ENSP00000405294.1:n.*2764C>T
ENST00000538136.1:c.2511C>T (MSH6) ENSP00000438580.1:p.Gly837=
ENST00000540021.5:c.3027C>T (MSH6) ENSP00000446475.1:p.Gly1009=
ENST00000614496.4:c.2511C>T (MSH6) ENSP00000477844.1:p.Gly837=
ENST00000622629.4:c.320C>T (MSH6) ENSP00000482078.1:p.Ala107Val
NM_000179.2:c.3417C>T , LRG_219t1:c.3417C>T (MSH6) NP_000170.1:p.Gly1139=
NM_001281492.1:c.3027C>T (MSH6) NP_001268421.1:p.Gly1009=
NM_001281493.1:c.2511C>T (MSH6) NP_001268422.1:p.Gly837=
NM_001281494.1:c.2511C>T (MSH6) NP_001268423.1:p.Gly837=
XM_005264271.1:c.3120C>T (MSH6) XP_005264328.1:p.Gly1040=
XM_011532798.1:c.3234C>T (MSH6) XP_011531100.1:p.Gly1078=
XM_011532799.1:c.3120C>T (MSH6) XP_011531101.1:p.Gly1040=
XM_011532800.1:c.3120C>T (MSH6) XP_011531102.1:p.Gly1040=
XM_024452819.1:c.3417C>T (MSH6) XP_024308587.1:p.Gly1139=
XM_024452820.1:c.3234C>T (MSH6) XP_024308588.1:p.Gly1078=
XM_024452821.1:c.3120C>T (MSH6) XP_024308589.1:p.Gly1040=
XM_024452822.1:c.2511C>T (MSH6) XP_024308590.1:p.Gly837=
NM_000179.3:c.3417C>T (MSH6) MANE Select NP_000170.1:p.Gly1139=
NM_001281492.2:c.3027C>T (MSH6) NP_001268421.1:p.Gly1009=
NM_001281493.2:c.2511C>T (MSH6) NP_001268422.1:p.Gly837=
NM_001281494.2:c.2511C>T (MSH6) NP_001268423.1:p.Gly837=