Canonical Allele Identifier: CA067444

Linked Data

ClinVar Variation Id: 378967
dbSNP Id: rs767746584
gnomAD v2: 2-48026406-G-A
gnomAD v3: 2-47799267-G-A
gnomAD v4: 2-47799267-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799267G>A , CM000664.2:g.47799267G>A GRCh38
NC_000002.11:g.48026406G>A , CM000664.1:g.48026406G>A GRCh37
NC_000002.10:g.47879910G>A NCBI36
NG_007111.1:g.21121G>A , LRG_219:g.21121G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.987G>A (MSH6) ENSP00000406248.2:p.Lys329=
ENST00000420813.6:c.987G>A (MSH6) ENSP00000390382.2:p.Lys329=
ENST00000455383.6:c.987G>A (MSH6) ENSP00000397484.2:p.Lys329=
ENST00000700004.2:c.1284G>A (MSH6) ENSP00000514752.2:p.Lys428=
ENST00000699999.1:n.1368G>A (MSH6)
ENST00000700000.1:c.1284G>A (MSH6) ENSP00000514749.1:p.Lys428=
ENST00000700002.1:c.1290G>A (MSH6) ENSP00000514750.1:p.Lys430=
ENST00000700003.1:c.627+3204G>A (MSH6) ENSP00000514751.1:n.627+3204G>A
ENST00000700004.1:c.441G>A (MSH6) ENSP00000514752.1:p.Lys147=
ENST00000234420.11:c.1284G>A (MSH6) MANE Select ENSP00000234420.5:p.Lys428=
ENST00000540021.6:c.894G>A (MSH6) ENSP00000446475.1:p.Lys298=
ENST00000652107.1:c.987G>A (MSH6) ENSP00000498629.1:p.Lys329=
ENST00000673637.1:c.987G>A (MSH6) ENSP00000501310.1:p.Lys329=
ENST00000234420.9:c.1284G>A (MSH6) ENSP00000234420.4:p.Lys428=
ENST00000405808.5:c.169+8928C>T (FBXO11) ENSP00000385127.1:n.169+8928C>T
ENST00000434234.5:c.*124+8727C>T (FBXO11) ENSP00000402692.1:n.*124+8727C>T
ENST00000445503.5:c.*631G>A (MSH6) ENSP00000405294.1:n.*631G>A
ENST00000538136.1:c.378G>A (MSH6) ENSP00000438580.1:p.Lys126=
ENST00000540021.5:c.894G>A (MSH6) ENSP00000446475.1:p.Lys298=
ENST00000614496.4:c.378G>A (MSH6) ENSP00000477844.1:p.Lys126=
ENST00000616033.4:c.1281G>A (MSH6) ENSP00000480261.1:p.Lys427=
ENST00000622629.4:c.-1813G>A (MSH6) ENSP00000482078.1:n.-1813G>A
NM_000179.2:c.1284G>A , LRG_219t1:c.1284G>A (MSH6) NP_000170.1:p.Lys428=
NM_001281492.1:c.894G>A (MSH6) NP_001268421.1:p.Lys298=
NM_001281493.1:c.378G>A (MSH6) NP_001268422.1:p.Lys126=
NM_001281494.1:c.378G>A (MSH6) NP_001268423.1:p.Lys126=
XM_005264271.1:c.987G>A (MSH6) XP_005264328.1:p.Lys329=
XM_011532798.1:c.1101G>A (MSH6) XP_011531100.1:p.Lys367=
XM_011532799.1:c.987G>A (MSH6) XP_011531101.1:p.Lys329=
XM_011532800.1:c.987G>A (MSH6) XP_011531102.1:p.Lys329=
XM_024452819.1:c.1284G>A (MSH6) XP_024308587.1:p.Lys428=
XM_024452820.1:c.1101G>A (MSH6) XP_024308588.1:p.Lys367=
XM_024452821.1:c.987G>A (MSH6) XP_024308589.1:p.Lys329=
XM_024452822.1:c.378G>A (MSH6) XP_024308590.1:p.Lys126=
NM_000179.3:c.1284G>A (MSH6) MANE Select NP_000170.1:p.Lys428=
NM_001281492.2:c.894G>A (MSH6) NP_001268421.1:p.Lys298=
NM_001281493.2:c.378G>A (MSH6) NP_001268422.1:p.Lys126=
NM_001281494.2:c.378G>A (MSH6) NP_001268423.1:p.Lys126=