Canonical Allele Identifier: CA2580081001

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2002587
• ClinVar RCV Id: RCV002820520

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776626dup , CM000671.2:g.137776626dup	GRCh38
NC_000009.11:g.140671078dup , CM000671.1:g.140671078dup	GRCh37
NC_000009.10:g.139790899dup	NCBI36
NG_011776.1:g.162635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1800dup MANE Select	ENSP00000417980.1:p.Met601TyrfsTer23
ENST00000636027.1:c.1686dup	ENSP00000489961.1:p.Met563TyrfsTer23
ENST00000637161.1:c.1707dup	ENSP00000490328.1:p.Met570TyrfsTer23
ENST00000637261.1:c.1840dup	ENSP00000490815.1:n.1840dup
ENST00000638071.1:c.1427dup
ENST00000640639.1:c.969dup	ENSP00000491823.1:p.Met324TyrfsTer23
ENST00000371394.6:c.*1535dup	ENSP00000485945.1:n.*1535dup
ENST00000460843.5:c.1800dup	ENSP00000417980.1:p.Met601TyrfsTer23
ENST00000462484.5:c.1800dup	ENSP00000417328.1:p.Met601TyrfsTer23
ENST00000462942.3:c.657dup	ENSP00000436107.1:p.Met220TyrfsTer23
ENST00000465566.2:c.348dup	ENSP00000486261.1:p.Met117TyrfsTer23
ENST00000626603.1:n.1826dup
NM_001145527.1:c.1800dup	NP_001138999.1:p.Met601TyrfsTer23
NM_024757.4:c.1800dup	NP_079033.4:p.Met601TyrfsTer23
XM_005266105.3:c.1791dup	XP_005266162.1:p.Met598TyrfsTer23
XM_005266110.1:c.1707dup	XP_005266167.1:p.Met570TyrfsTer23
XM_006717288.2:c.1782dup	XP_006717351.1:p.Met595TyrfsTer23
XM_011519021.1:c.1809dup	XP_011517323.1:p.Met604TyrfsTer23
XM_011519022.1:c.1806dup	XP_011517324.1:p.Met603TyrfsTer23
XM_011519023.1:c.1788dup	XP_011517325.1:p.Met597TyrfsTer23
XM_011519024.1:c.1731dup	XP_011517326.1:p.Met578TyrfsTer23
XM_011519025.1:c.1707dup	XP_011517327.1:p.Met570TyrfsTer23
XM_011519026.1:c.1665dup	XP_011517328.1:p.Met556TyrfsTer23
XM_011519027.1:c.1809dup	XP_011517329.1:p.Met604TyrfsTer23
XM_011519028.1:c.1809dup	XP_011517330.1:p.Met604TyrfsTer23
XM_011519029.1:c.231dup	XP_011517331.1:p.Met78TyrfsTer23
XM_011519033.1:c.1644dup	XP_011517335.1:p.Met549TyrfsTer23
NM_001354259.1:c.1707dup	NP_001341188.1:p.Met570TyrfsTer23
NM_001354263.1:c.1779dup	NP_001341192.1:p.Met594TyrfsTer23
XM_005266105.5:c.1791dup	XP_005266162.1:p.Met598TyrfsTer23
XM_011519021.3:c.1809dup	XP_011517323.1:p.Met604TyrfsTer23
XM_011519022.3:c.1806dup	XP_011517324.1:p.Met603TyrfsTer23
XM_011519023.3:c.1788dup	XP_011517325.1:p.Met597TyrfsTer23
XM_011519029.3:c.231dup	XP_011517331.1:p.Met78TyrfsTer23
XM_017015134.1:c.1785dup	XP_016870623.1:p.Met596TyrfsTer23
XM_017015136.2:c.1701dup	XP_016870625.1:p.Met568TyrfsTer23
XM_017015137.1:c.1686dup	XP_016870626.1:p.Met563TyrfsTer23
XM_017015138.1:c.1686dup	XP_016870627.1:p.Met563TyrfsTer23
XM_024447674.1:c.1629dup	XP_024303442.1:p.Met544TyrfsTer23
XM_024447675.1:c.1563dup	XP_024303443.1:p.Met522TyrfsTer23
XM_024447676.1:c.924dup	XP_024303444.1:p.Met309TyrfsTer23
XM_024447677.1:c.924dup	XP_024303445.1:p.Met309TyrfsTer23
XM_024447678.1:c.1707dup	XP_024303446.1:p.Met570TyrfsTer23
XM_024447679.1:c.1707dup	XP_024303447.1:p.Met570TyrfsTer23
XM_024447680.1:c.1542dup	XP_024303448.1:p.Met515TyrfsTer23
NM_024757.5:c.1800dup MANE Select	NP_079033.4:p.Met601TyrfsTer23
NM_001145527.2:c.1800dup	NP_001138999.1:p.Met601TyrfsTer23
NM_001354259.2:c.1707dup	NP_001341188.1:p.Met570TyrfsTer23
NM_001354263.2:c.1779dup	NP_001341192.1:p.Met594TyrfsTer23