Canonical Allele Identifier: CA346758428

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803537C>T , CM000664.2:g.47803537C>T GRCh38
NC_000002.11:g.48030676C>T , CM000664.1:g.48030676C>T GRCh37
NC_000002.10:g.47884180C>T NCBI36
NG_007111.1:g.25391C>T , LRG_219:g.25391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2993C>T (MSH6) ENSP00000406248.2:p.Pro998Leu
ENST00000420813.6:c.2993C>T (MSH6) ENSP00000390382.2:p.Pro998Leu
ENST00000455383.6:c.2993C>T (MSH6) ENSP00000397484.2:p.Pro998Leu
ENST00000700004.2:c.3173-2081C>T (MSH6) ENSP00000514752.2:n.3173-2081C>T
ENST00000699999.1:n.3374C>T (MSH6)
ENST00000700000.1:c.1724C>T (MSH6) ENSP00000514749.1:p.Pro575Leu
ENST00000700002.1:c.3296C>T (MSH6) ENSP00000514750.1:p.Pro1099Leu
ENST00000700003.1:c.745C>T (MSH6) ENSP00000514751.1:n.745C>T
ENST00000700004.1:c.2330-2081C>T (MSH6) ENSP00000514752.1:n.2330-2081C>T
ENST00000700005.1:n.2141C>T (MSH6)
ENST00000700006.1:n.2138C>T (MSH6)
ENST00000700007.1:n.1295C>T (MSH6)
ENST00000700008.1:n.869C>T (MSH6)
ENST00000700009.1:n.868C>T (MSH6)
ENST00000700010.1:n.699C>T (MSH6)
ENST00000700011.1:n.770C>T (MSH6)
ENST00000234420.11:c.3290C>T (MSH6) MANE Select ENSP00000234420.5:p.Pro1097Leu
ENST00000540021.6:c.2900C>T (MSH6) ENSP00000446475.1:p.Pro967Leu
ENST00000652107.1:c.2993C>T (MSH6) ENSP00000498629.1:p.Pro998Leu
ENST00000673637.1:c.2993C>T (MSH6) ENSP00000501310.1:p.Pro998Leu
ENST00000234420.9:c.3290C>T (MSH6) ENSP00000234420.4:p.Pro1097Leu
ENST00000405808.5:c.169+4658G>A (FBXO11) ENSP00000385127.1:n.169+4658G>A
ENST00000434234.5:c.*124+4457G>A (FBXO11) ENSP00000402692.1:n.*124+4457G>A
ENST00000445503.5:c.*2637C>T (MSH6) ENSP00000405294.1:n.*2637C>T
ENST00000538136.1:c.2384C>T (MSH6) ENSP00000438580.1:p.Pro795Leu
ENST00000540021.5:c.2900C>T (MSH6) ENSP00000446475.1:p.Pro967Leu
ENST00000614496.4:c.2384C>T (MSH6) ENSP00000477844.1:p.Pro795Leu
ENST00000622629.4:c.194C>T (MSH6) ENSP00000482078.1:p.Pro65Leu
NM_000179.2:c.3290C>T , LRG_219t1:c.3290C>T (MSH6) NP_000170.1:p.Pro1097Leu
NM_001281492.1:c.2900C>T (MSH6) NP_001268421.1:p.Pro967Leu
NM_001281493.1:c.2384C>T (MSH6) NP_001268422.1:p.Pro795Leu
NM_001281494.1:c.2384C>T (MSH6) NP_001268423.1:p.Pro795Leu
XM_005264271.1:c.2993C>T (MSH6) XP_005264328.1:p.Pro998Leu
XM_011532798.1:c.3107C>T (MSH6) XP_011531100.1:p.Pro1036Leu
XM_011532799.1:c.2993C>T (MSH6) XP_011531101.1:p.Pro998Leu
XM_011532800.1:c.2993C>T (MSH6) XP_011531102.1:p.Pro998Leu
XM_024452819.1:c.3290C>T (MSH6) XP_024308587.1:p.Pro1097Leu
XM_024452820.1:c.3107C>T (MSH6) XP_024308588.1:p.Pro1036Leu
XM_024452821.1:c.2993C>T (MSH6) XP_024308589.1:p.Pro998Leu
XM_024452822.1:c.2384C>T (MSH6) XP_024308590.1:p.Pro795Leu
NM_000179.3:c.3290C>T (MSH6) MANE Select NP_000170.1:p.Pro1097Leu
NM_001281492.2:c.2900C>T (MSH6) NP_001268421.1:p.Pro967Leu
NM_001281493.2:c.2384C>T (MSH6) NP_001268422.1:p.Pro795Leu
NM_001281494.2:c.2384C>T (MSH6) NP_001268423.1:p.Pro795Leu