Canonical Allele Identifier: CA346740753

Linked Data

ClinVar Variation Id: 485880
ClinVar RCV Id: RCV000562177
dbSNP Id: rs1323987464

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798914A>C , CM000664.2:g.47798914A>C GRCh38
NC_000002.11:g.48026053A>C , CM000664.1:g.48026053A>C GRCh37
NC_000002.10:g.47879557A>C NCBI36
NG_007111.1:g.20768A>C , LRG_219:g.20768A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.634A>C (MSH6) ENSP00000406248.2:p.Lys212Gln
ENST00000420813.6:c.634A>C (MSH6) ENSP00000390382.2:p.Lys212Gln
ENST00000455383.6:c.634A>C (MSH6) ENSP00000397484.2:p.Lys212Gln
ENST00000700004.2:c.931A>C (MSH6) ENSP00000514752.2:p.Lys311Gln
ENST00000699999.1:n.1015A>C (MSH6)
ENST00000700000.1:c.931A>C (MSH6) ENSP00000514749.1:p.Lys311Gln
ENST00000700002.1:c.937A>C (MSH6) ENSP00000514750.1:p.Lys313Gln
ENST00000700003.1:c.627+2851A>C (MSH6) ENSP00000514751.1:n.627+2851A>C
ENST00000700004.1:c.88A>C (MSH6) ENSP00000514752.1:p.Lys30Gln
ENST00000234420.11:c.931A>C (MSH6) MANE Select ENSP00000234420.5:p.Lys311Gln
ENST00000540021.6:c.541A>C (MSH6) ENSP00000446475.1:p.Lys181Gln
ENST00000652107.1:c.634A>C (MSH6) ENSP00000498629.1:p.Lys212Gln
ENST00000673637.1:c.634A>C (MSH6) ENSP00000501310.1:p.Lys212Gln
ENST00000234420.9:c.931A>C (MSH6) ENSP00000234420.4:p.Lys311Gln
ENST00000405808.5:c.169+9281T>G (FBXO11) ENSP00000385127.1:n.169+9281T>G
ENST00000434234.5:c.*124+9080T>G (FBXO11) ENSP00000402692.1:n.*124+9080T>G
ENST00000445503.5:c.*278A>C (MSH6) ENSP00000405294.1:n.*278A>C
ENST00000456246.1:c.*419A>C (MSH6) ENSP00000410570.1:n.*419A>C
ENST00000538136.1:c.25A>C (MSH6) ENSP00000438580.1:p.Lys9Gln
ENST00000540021.5:c.541A>C (MSH6) ENSP00000446475.1:p.Lys181Gln
ENST00000614496.4:c.25A>C (MSH6) ENSP00000477844.1:p.Lys9Gln
ENST00000616033.4:c.928A>C (MSH6) ENSP00000480261.1:p.Lys310Gln
ENST00000622629.4:c.-2166A>C (MSH6) ENSP00000482078.1:n.-2166A>C
NM_000179.2:c.931A>C , LRG_219t1:c.931A>C (MSH6) NP_000170.1:p.Lys311Gln
NM_001281492.1:c.541A>C (MSH6) NP_001268421.1:p.Lys181Gln
NM_001281493.1:c.25A>C (MSH6) NP_001268422.1:p.Lys9Gln
NM_001281494.1:c.25A>C (MSH6) NP_001268423.1:p.Lys9Gln
XM_005264271.1:c.634A>C (MSH6) XP_005264328.1:p.Lys212Gln
XM_011532798.1:c.748A>C (MSH6) XP_011531100.1:p.Lys250Gln
XM_011532799.1:c.634A>C (MSH6) XP_011531101.1:p.Lys212Gln
XM_011532800.1:c.634A>C (MSH6) XP_011531102.1:p.Lys212Gln
XM_024452819.1:c.931A>C (MSH6) XP_024308587.1:p.Lys311Gln
XM_024452820.1:c.748A>C (MSH6) XP_024308588.1:p.Lys250Gln
XM_024452821.1:c.634A>C (MSH6) XP_024308589.1:p.Lys212Gln
XM_024452822.1:c.25A>C (MSH6) XP_024308590.1:p.Lys9Gln
NM_000179.3:c.931A>C (MSH6) MANE Select NP_000170.1:p.Lys311Gln
NM_001281492.2:c.541A>C (MSH6) NP_001268421.1:p.Lys181Gln
NM_001281493.2:c.25A>C (MSH6) NP_001268422.1:p.Lys9Gln
NM_001281494.2:c.25A>C (MSH6) NP_001268423.1:p.Lys9Gln