Canonical Allele Identifier: CA012103

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 134855
• ClinVar RCV Id: RCV000121586 ; RCV000214188 ; RCV000200854 ; RCV000590417 ; RCV003997353 ; RCV000663151 ; RCV003460855
• dbSNP Id: rs376452612
• ExAC: 2:48030619 T / C
• gnomAD v2: 2-48030619-T-C
• gnomAD v3: 2-47803480-T-C
• gnomAD v4: 2-47803480-T-C
• MyVariant Identifiers: chr2:g.48030619T>C (hg19) ; chr2:g.47803480T>C (hg38)
• PubMed: PMID:23621914 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803480T>C , CM000664.2:g.47803480T>C	GRCh38
NC_000002.11:g.48030619T>C , CM000664.1:g.48030619T>C	GRCh37
NC_000002.10:g.47884123T>C	NCBI36
NG_007111.1:g.25334T>C , LRG_219:g.25334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2936T>C (MSH6)	ENSP00000406248.2:p.Val979Ala
ENST00000420813.6:c.2936T>C (MSH6)	ENSP00000390382.2:p.Val979Ala
ENST00000455383.6:c.2936T>C (MSH6)	ENSP00000397484.2:p.Val979Ala
ENST00000700004.2:c.3173-2138T>C (MSH6)	ENSP00000514752.2:n.3173-2138T>C
ENST00000699999.1:n.3317T>C (MSH6)
ENST00000700000.1:c.1667T>C (MSH6)	ENSP00000514749.1:p.Val556Ala
ENST00000700002.1:c.3239T>C (MSH6)	ENSP00000514750.1:p.Val1080Ala
ENST00000700003.1:c.688T>C (MSH6)	ENSP00000514751.1:p.Ter230Gln
ENST00000700004.1:c.2330-2138T>C (MSH6)	ENSP00000514752.1:n.2330-2138T>C
ENST00000700005.1:n.2084T>C (MSH6)
ENST00000700006.1:n.2081T>C (MSH6)
ENST00000700007.1:n.1238T>C (MSH6)
ENST00000700008.1:n.812T>C (MSH6)
ENST00000700009.1:n.811T>C (MSH6)
ENST00000700010.1:n.642T>C (MSH6)
ENST00000700011.1:n.713T>C (MSH6)
ENST00000234420.11:c.3233T>C (MSH6) MANE Select	ENSP00000234420.5:p.Val1078Ala
ENST00000540021.6:c.2843T>C (MSH6)	ENSP00000446475.1:p.Val948Ala
ENST00000652107.1:c.2936T>C (MSH6)	ENSP00000498629.1:p.Val979Ala
ENST00000673637.1:c.2936T>C (MSH6)	ENSP00000501310.1:p.Val979Ala
ENST00000234420.9:c.3233T>C (MSH6)	ENSP00000234420.4:p.Val1078Ala
ENST00000405808.5:c.169+4715A>G (FBXO11)	ENSP00000385127.1:n.169+4715A>G
ENST00000434234.5:c.*124+4514A>G (FBXO11)	ENSP00000402692.1:n.*124+4514A>G
ENST00000445503.5:c.*2580T>C (MSH6)	ENSP00000405294.1:n.*2580T>C
ENST00000538136.1:c.2327T>C (MSH6)	ENSP00000438580.1:p.Val776Ala
ENST00000540021.5:c.2843T>C (MSH6)	ENSP00000446475.1:p.Val948Ala
ENST00000614496.4:c.2327T>C (MSH6)	ENSP00000477844.1:p.Val776Ala
ENST00000622629.4:c.137T>C (MSH6)	ENSP00000482078.1:p.Val46Ala
NM_000179.2:c.3233T>C , LRG_219t1:c.3233T>C (MSH6)	NP_000170.1:p.Val1078Ala
NM_001281492.1:c.2843T>C (MSH6)	NP_001268421.1:p.Val948Ala
NM_001281493.1:c.2327T>C (MSH6)	NP_001268422.1:p.Val776Ala
NM_001281494.1:c.2327T>C (MSH6)	NP_001268423.1:p.Val776Ala
XM_005264271.1:c.2936T>C (MSH6)	XP_005264328.1:p.Val979Ala
XM_011532798.1:c.3050T>C (MSH6)	XP_011531100.1:p.Val1017Ala
XM_011532799.1:c.2936T>C (MSH6)	XP_011531101.1:p.Val979Ala
XM_011532800.1:c.2936T>C (MSH6)	XP_011531102.1:p.Val979Ala
XM_024452819.1:c.3233T>C (MSH6)	XP_024308587.1:p.Val1078Ala
XM_024452820.1:c.3050T>C (MSH6)	XP_024308588.1:p.Val1017Ala
XM_024452821.1:c.2936T>C (MSH6)	XP_024308589.1:p.Val979Ala
XM_024452822.1:c.2327T>C (MSH6)	XP_024308590.1:p.Val776Ala
NM_000179.3:c.3233T>C (MSH6) MANE Select	NP_000170.1:p.Val1078Ala
NM_001281492.2:c.2843T>C (MSH6)	NP_001268421.1:p.Val948Ala
NM_001281493.2:c.2327T>C (MSH6)	NP_001268422.1:p.Val776Ala
NM_001281494.2:c.2327T>C (MSH6)	NP_001268423.1:p.Val776Ala