Canonical Allele Identifier: CA013053

Linked Data

ClinVar Variation Id: 184794
dbSNP Id: rs376799914
gnomAD v4: 2-47804949-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804949G>T , CM000664.2:g.47804949G>T GRCh38
NC_000002.11:g.48032088G>T , CM000664.1:g.48032088G>T GRCh37
NC_000002.10:g.47885592G>T NCBI36
NG_007111.1:g.26803G>T , LRG_219:g.26803G>T
NG_008397.1:g.105727C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3181G>T (MSH6) ENSP00000406248.2:p.Val1061Phe
ENST00000420813.6:c.3181G>T (MSH6) ENSP00000390382.2:p.Val1061Phe
ENST00000455383.6:c.3181G>T (MSH6) ENSP00000397484.2:p.Val1061Phe
ENST00000700004.2:c.3173-669G>T (MSH6) ENSP00000514752.2:n.3173-669G>T
ENST00000699999.1:n.3562G>T (MSH6)
ENST00000700000.1:c.1912G>T (MSH6) ENSP00000514749.1:p.Val638Phe
ENST00000700002.1:c.3484G>T (MSH6) ENSP00000514750.1:p.Val1162Phe
ENST00000700003.1:c.933G>T (MSH6) ENSP00000514751.1:n.933G>T
ENST00000700004.1:c.2330-669G>T (MSH6) ENSP00000514752.1:n.2330-669G>T
ENST00000700005.1:n.2329G>T (MSH6)
ENST00000700006.1:n.3550G>T (MSH6)
ENST00000700007.1:n.1483G>T (MSH6)
ENST00000700008.1:n.1057G>T (MSH6)
ENST00000700009.1:n.1056G>T (MSH6)
ENST00000700010.1:n.887G>T (MSH6)
ENST00000700011.1:n.2182G>T (MSH6)
ENST00000234420.11:c.3478G>T (MSH6) MANE Select ENSP00000234420.5:p.Val1160Phe
ENST00000540021.6:c.3088G>T (MSH6) ENSP00000446475.1:p.Val1030Phe
ENST00000652107.1:c.3181G>T (MSH6) ENSP00000498629.1:p.Val1061Phe
ENST00000673637.1:c.3181G>T (MSH6) ENSP00000501310.1:p.Val1061Phe
ENST00000234420.9:c.3478G>T (MSH6) ENSP00000234420.4:p.Val1160Phe
ENST00000405808.5:c.169+3246C>A (FBXO11) ENSP00000385127.1:n.169+3246C>A
ENST00000434234.5:c.*124+3045C>A (FBXO11) ENSP00000402692.1:n.*124+3045C>A
ENST00000445503.5:c.*2825G>T (MSH6) ENSP00000405294.1:n.*2825G>T
ENST00000538136.1:c.2572G>T (MSH6) ENSP00000438580.1:p.Val858Phe
ENST00000540021.5:c.3088G>T (MSH6) ENSP00000446475.1:p.Val1030Phe
ENST00000614496.4:c.2572G>T (MSH6) ENSP00000477844.1:p.Val858Phe
ENST00000622629.4:c.382G>T (MSH6) ENSP00000482078.1:p.Val128Phe
NM_000179.2:c.3478G>T , LRG_219t1:c.3478G>T (MSH6) NP_000170.1:p.Val1160Phe
NM_001281492.1:c.3088G>T (MSH6) NP_001268421.1:p.Val1030Phe
NM_001281493.1:c.2572G>T (MSH6) NP_001268422.1:p.Val858Phe
NM_001281494.1:c.2572G>T (MSH6) NP_001268423.1:p.Val858Phe
XM_005264271.1:c.3181G>T (MSH6) XP_005264328.1:p.Val1061Phe
XM_011532798.1:c.3295G>T (MSH6) XP_011531100.1:p.Val1099Phe
XM_011532799.1:c.3181G>T (MSH6) XP_011531101.1:p.Val1061Phe
XM_011532800.1:c.3181G>T (MSH6) XP_011531102.1:p.Val1061Phe
XM_024452819.1:c.3478G>T (MSH6) XP_024308587.1:p.Val1160Phe
XM_024452820.1:c.3295G>T (MSH6) XP_024308588.1:p.Val1099Phe
XM_024452821.1:c.3181G>T (MSH6) XP_024308589.1:p.Val1061Phe
XM_024452822.1:c.2572G>T (MSH6) XP_024308590.1:p.Val858Phe
NM_000179.3:c.3478G>T (MSH6) MANE Select NP_000170.1:p.Val1160Phe
NM_001281492.2:c.3088G>T (MSH6) NP_001268421.1:p.Val1030Phe
NM_001281493.2:c.2572G>T (MSH6) NP_001268422.1:p.Val858Phe
NM_001281494.2:c.2572G>T (MSH6) NP_001268423.1:p.Val858Phe