Canonical Allele Identifier: CA346740756

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798915A>G , CM000664.2:g.47798915A>G GRCh38
NC_000002.11:g.48026054A>G , CM000664.1:g.48026054A>G GRCh37
NC_000002.10:g.47879558A>G NCBI36
NG_007111.1:g.20769A>G , LRG_219:g.20769A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.635A>G (MSH6) ENSP00000406248.2:p.Lys212Arg
ENST00000420813.6:c.635A>G (MSH6) ENSP00000390382.2:p.Lys212Arg
ENST00000455383.6:c.635A>G (MSH6) ENSP00000397484.2:p.Lys212Arg
ENST00000700004.2:c.932A>G (MSH6) ENSP00000514752.2:p.Lys311Arg
ENST00000699999.1:n.1016A>G (MSH6)
ENST00000700000.1:c.932A>G (MSH6) ENSP00000514749.1:p.Lys311Arg
ENST00000700002.1:c.938A>G (MSH6) ENSP00000514750.1:p.Lys313Arg
ENST00000700003.1:c.627+2852A>G (MSH6) ENSP00000514751.1:n.627+2852A>G
ENST00000700004.1:c.89A>G (MSH6) ENSP00000514752.1:p.Lys30Arg
ENST00000234420.11:c.932A>G (MSH6) MANE Select ENSP00000234420.5:p.Lys311Arg
ENST00000540021.6:c.542A>G (MSH6) ENSP00000446475.1:p.Lys181Arg
ENST00000652107.1:c.635A>G (MSH6) ENSP00000498629.1:p.Lys212Arg
ENST00000673637.1:c.635A>G (MSH6) ENSP00000501310.1:p.Lys212Arg
ENST00000234420.9:c.932A>G (MSH6) ENSP00000234420.4:p.Lys311Arg
ENST00000405808.5:c.169+9280T>C (FBXO11) ENSP00000385127.1:n.169+9280T>C
ENST00000434234.5:c.*124+9079T>C (FBXO11) ENSP00000402692.1:n.*124+9079T>C
ENST00000445503.5:c.*279A>G (MSH6) ENSP00000405294.1:n.*279A>G
ENST00000456246.1:c.*420A>G (MSH6) ENSP00000410570.1:n.*420A>G
ENST00000538136.1:c.26A>G (MSH6) ENSP00000438580.1:p.Lys9Arg
ENST00000540021.5:c.542A>G (MSH6) ENSP00000446475.1:p.Lys181Arg
ENST00000614496.4:c.26A>G (MSH6) ENSP00000477844.1:p.Lys9Arg
ENST00000616033.4:c.929A>G (MSH6) ENSP00000480261.1:p.Lys310Arg
ENST00000622629.4:c.-2165A>G (MSH6) ENSP00000482078.1:n.-2165A>G
NM_000179.2:c.932A>G , LRG_219t1:c.932A>G (MSH6) NP_000170.1:p.Lys311Arg
NM_001281492.1:c.542A>G (MSH6) NP_001268421.1:p.Lys181Arg
NM_001281493.1:c.26A>G (MSH6) NP_001268422.1:p.Lys9Arg
NM_001281494.1:c.26A>G (MSH6) NP_001268423.1:p.Lys9Arg
XM_005264271.1:c.635A>G (MSH6) XP_005264328.1:p.Lys212Arg
XM_011532798.1:c.749A>G (MSH6) XP_011531100.1:p.Lys250Arg
XM_011532799.1:c.635A>G (MSH6) XP_011531101.1:p.Lys212Arg
XM_011532800.1:c.635A>G (MSH6) XP_011531102.1:p.Lys212Arg
XM_024452819.1:c.932A>G (MSH6) XP_024308587.1:p.Lys311Arg
XM_024452820.1:c.749A>G (MSH6) XP_024308588.1:p.Lys250Arg
XM_024452821.1:c.635A>G (MSH6) XP_024308589.1:p.Lys212Arg
XM_024452822.1:c.26A>G (MSH6) XP_024308590.1:p.Lys9Arg
NM_000179.3:c.932A>G (MSH6) MANE Select NP_000170.1:p.Lys311Arg
NM_001281492.2:c.542A>G (MSH6) NP_001268421.1:p.Lys181Arg
NM_001281493.2:c.26A>G (MSH6) NP_001268422.1:p.Lys9Arg
NM_001281494.2:c.26A>G (MSH6) NP_001268423.1:p.Lys9Arg