Canonical Allele Identifier: CA10575851

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 221980
• ClinVar RCV Id: RCV000241547
• dbSNP Id: rs886037776
• MyVariant Identifiers: chr9:g.140711929G>A (hg19) ; chr9:g.137817477G>A (hg38)
• PubMed: PMID:20945554 ; PMID:27651234

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137817477G>A , CM000671.2:g.137817477G>A	GRCh38
NC_000009.11:g.140711929G>A , CM000671.1:g.140711929G>A	GRCh37
NC_000009.10:g.139831750G>A	NCBI36
NG_011776.1:g.203486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3413G>A MANE Select	ENSP00000417980.1:p.Trp1138Ter
ENST00000637161.1:c.3320G>A	ENSP00000490328.1:p.Trp1107Ter
ENST00000637261.1:c.3453G>A	ENSP00000490815.1:n.3453G>A
ENST00000637748.1:n.394G>A
ENST00000637784.1:n.66G>A
ENST00000637891.1:c.1487G>A	ENSP00000490907.1:n.1487G>A
ENST00000460843.5:c.3413G>A	ENSP00000417980.1:p.Trp1138Ter
ENST00000462942.3:c.2270G>A	ENSP00000436107.1:p.Trp757Ter
ENST00000475564.5:n.1137G>A
ENST00000494249.5:n.766G>A
NM_024757.4:c.3413G>A	NP_079033.4:p.Trp1138Ter
XM_005266105.3:c.3404G>A	XP_005266162.1:p.Trp1135Ter
XM_005266110.1:c.3320G>A	XP_005266167.1:p.Trp1107Ter
XM_006717288.2:c.3395G>A	XP_006717351.1:p.Trp1132Ter
XM_011519021.1:c.3422G>A	XP_011517323.1:p.Trp1141Ter
XM_011519022.1:c.3419G>A	XP_011517324.1:p.Trp1140Ter
XM_011519023.1:c.3401G>A	XP_011517325.1:p.Trp1134Ter
XM_011519024.1:c.3344G>A	XP_011517326.1:p.Trp1115Ter
XM_011519025.1:c.3320G>A	XP_011517327.1:p.Trp1107Ter
XM_011519026.1:c.3278G>A	XP_011517328.1:p.Trp1093Ter
XM_011519029.1:c.1844G>A	XP_011517331.1:p.Trp615Ter
XM_011519030.1:c.1196G>A	XP_011517332.1:p.Trp399Ter
XM_011519031.1:c.983G>A	XP_011517333.1:p.Trp328Ter
XM_011519032.1:c.983G>A	XP_011517334.1:p.Trp328Ter
XM_011519033.1:c.3257G>A	XP_011517335.1:p.Trp1086Ter
XR_930459.1:n.5297-2915C>T
NM_001354263.1:c.3392G>A	NP_001341192.1:p.Trp1131Ter
XM_005266105.5:c.3404G>A	XP_005266162.1:p.Trp1135Ter
XM_011519021.3:c.3422G>A	XP_011517323.1:p.Trp1141Ter
XM_011519022.3:c.3419G>A	XP_011517324.1:p.Trp1140Ter
XM_011519023.3:c.3401G>A	XP_011517325.1:p.Trp1134Ter
XM_011519029.3:c.1844G>A	XP_011517331.1:p.Trp615Ter
XM_011519030.3:c.1196G>A	XP_011517332.1:p.Trp399Ter
XM_017015134.1:c.3398G>A	XP_016870623.1:p.Trp1133Ter
XM_017015136.2:c.3314G>A	XP_016870625.1:p.Trp1105Ter
XM_017015137.1:c.3299G>A	XP_016870626.1:p.Trp1100Ter
XM_017015138.1:c.3299G>A	XP_016870627.1:p.Trp1100Ter
XM_024447674.1:c.3242G>A	XP_024303442.1:p.Trp1081Ter
XM_024447675.1:c.3176G>A	XP_024303443.1:p.Trp1059Ter
XM_024447676.1:c.2537G>A	XP_024303444.1:p.Trp846Ter
XM_024447677.1:c.2537G>A	XP_024303445.1:p.Trp846Ter
XM_024447680.1:c.3155G>A	XP_024303448.1:p.Trp1052Ter
NM_024757.5:c.3413G>A MANE Select	NP_079033.4:p.Trp1138Ter
NM_001354263.2:c.3392G>A	NP_001341192.1:p.Trp1131Ter