Canonical Allele Identifier: CA346761046

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806293T>A , CM000664.2:g.47806293T>A GRCh38
NC_000002.11:g.48033432T>A , CM000664.1:g.48033432T>A GRCh37
NC_000002.10:g.47886936T>A NCBI36
NG_007111.1:g.28147T>A , LRG_219:g.28147T>A
NG_008397.1:g.104383A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3439T>A (MSH6) ENSP00000406248.2:p.Ser1147Thr
ENST00000420813.6:c.3439T>A (MSH6) ENSP00000390382.2:p.Ser1147Thr
ENST00000455383.6:c.3439T>A (MSH6) ENSP00000397484.2:p.Ser1147Thr
ENST00000700004.2:c.3352T>A (MSH6) ENSP00000514752.2:p.Ser1118Thr
ENST00000699999.1:n.4410T>A (MSH6)
ENST00000700000.1:c.2170T>A (MSH6) ENSP00000514749.1:p.Ser724Thr
ENST00000700002.1:c.3742T>A (MSH6) ENSP00000514750.1:p.Ser1248Thr
ENST00000700003.1:c.1191T>A (MSH6) ENSP00000514751.1:n.1191T>A
ENST00000700004.1:c.2509T>A (MSH6) ENSP00000514752.1:p.Ser837Thr
ENST00000700005.1:n.2587T>A (MSH6)
ENST00000700006.1:n.4894T>A (MSH6)
ENST00000700007.1:n.2331T>A (MSH6)
ENST00000700008.1:n.1905T>A (MSH6)
ENST00000700009.1:n.2400T>A (MSH6)
ENST00000700010.1:n.1145T>A (MSH6)
ENST00000700011.1:n.3030T>A (MSH6)
ENST00000682451.1:n.4455A>T (FBXO11)
ENST00000684712.1:n.4717A>T (FBXO11)
ENST00000234420.11:c.3736T>A (MSH6) MANE Select ENSP00000234420.5:p.Ser1246Thr
ENST00000540021.6:c.3346T>A (MSH6) ENSP00000446475.1:p.Ser1116Thr
ENST00000652107.1:c.3439T>A (MSH6) ENSP00000498629.1:p.Ser1147Thr
ENST00000673637.1:c.3439T>A (MSH6) ENSP00000501310.1:p.Ser1147Thr
ENST00000234420.9:c.3736T>A (MSH6) ENSP00000234420.4:p.Ser1246Thr
ENST00000405808.5:c.169+1902A>T (FBXO11) ENSP00000385127.1:n.169+1902A>T
ENST00000434234.5:c.*124+1701A>T (FBXO11) ENSP00000402692.1:n.*124+1701A>T
ENST00000445503.5:c.*3083T>A (MSH6) ENSP00000405294.1:n.*3083T>A
ENST00000538136.1:c.2830T>A (MSH6) ENSP00000438580.1:p.Ser944Thr
ENST00000540021.5:c.3346T>A (MSH6) ENSP00000446475.1:p.Ser1116Thr
ENST00000614496.4:c.2830T>A (MSH6) ENSP00000477844.1:p.Ser944Thr
ENST00000622629.4:c.640T>A (MSH6) ENSP00000482078.1:p.Ser214Thr
NM_000179.2:c.3736T>A , LRG_219t1:c.3736T>A (MSH6) NP_000170.1:p.Ser1246Thr
NM_001281492.1:c.3346T>A (MSH6) NP_001268421.1:p.Ser1116Thr
NM_001281493.1:c.2830T>A (MSH6) NP_001268422.1:p.Ser944Thr
NM_001281494.1:c.2830T>A (MSH6) NP_001268423.1:p.Ser944Thr
XM_005264271.1:c.3439T>A (MSH6) XP_005264328.1:p.Ser1147Thr
XM_011532798.1:c.3553T>A (MSH6) XP_011531100.1:p.Ser1185Thr
XM_011532799.1:c.3439T>A (MSH6) XP_011531101.1:p.Ser1147Thr
XM_011532800.1:c.3439T>A (MSH6) XP_011531102.1:p.Ser1147Thr
XM_024452819.1:c.3736T>A (MSH6) XP_024308587.1:p.Ser1246Thr
XM_024452820.1:c.3553T>A (MSH6) XP_024308588.1:p.Ser1185Thr
XM_024452821.1:c.3439T>A (MSH6) XP_024308589.1:p.Ser1147Thr
XM_024452822.1:c.2830T>A (MSH6) XP_024308590.1:p.Ser944Thr
NM_000179.3:c.3736T>A (MSH6) MANE Select NP_000170.1:p.Ser1246Thr
NM_001281492.2:c.3346T>A (MSH6) NP_001268421.1:p.Ser1116Thr
NM_001281493.2:c.2830T>A (MSH6) NP_001268422.1:p.Ser944Thr
NM_001281494.2:c.2830T>A (MSH6) NP_001268423.1:p.Ser944Thr