Canonical Allele Identifier: CA375769349

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 523809
• ClinVar RCV Id: RCV000627279 ; RCV001775139
• dbSNP Id: rs1554871138
• MyVariant Identifiers: chr9:g.140657213C>T (hg19) ; chr9:g.137762761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762761C>T , CM000671.2:g.137762761C>T	GRCh38
NC_000009.11:g.140657213C>T , CM000671.1:g.140657213C>T	GRCh37
NC_000009.10:g.139777034C>T	NCBI36
NG_011776.1:g.148770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1588C>T MANE Select	ENSP00000417980.1:p.Arg530Ter
ENST00000629335.2:c.1588C>T	ENSP00000490056.1:p.Arg530Ter
ENST00000636027.1:c.1474C>T	ENSP00000489961.1:p.Arg492Ter
ENST00000637161.1:c.1495C>T	ENSP00000490328.1:p.Arg499Ter
ENST00000637261.1:c.1628C>T	ENSP00000490815.1:n.1628C>T
ENST00000637977.1:c.1533C>T
ENST00000638071.1:c.1215C>T
ENST00000640639.1:c.757C>T	ENSP00000491823.1:p.Arg253Ter
ENST00000371394.6:c.*1323C>T	ENSP00000485945.1:n.*1323C>T
ENST00000460843.5:c.1588C>T	ENSP00000417980.1:p.Arg530Ter
ENST00000462484.5:c.1588C>T	ENSP00000417328.1:p.Arg530Ter
ENST00000462942.3:c.445C>T	ENSP00000436107.1:p.Arg149Ter
ENST00000465566.2:c.280C>T	ENSP00000486261.1:p.Arg94Ter
ENST00000629808.2:c.681C>T
NM_001145527.1:c.1588C>T	NP_001138999.1:p.Arg530Ter
NM_024757.4:c.1588C>T	NP_079033.4:p.Arg530Ter
XM_005266105.3:c.1579C>T	XP_005266162.1:p.Arg527Ter
XM_005266110.1:c.1495C>T	XP_005266167.1:p.Arg499Ter
XM_006717288.2:c.1570C>T	XP_006717351.1:p.Arg524Ter
XM_011519021.1:c.1597C>T	XP_011517323.1:p.Arg533Ter
XM_011519022.1:c.1594C>T	XP_011517324.1:p.Arg532Ter
XM_011519023.1:c.1576C>T	XP_011517325.1:p.Arg526Ter
XM_011519024.1:c.1519C>T	XP_011517326.1:p.Arg507Ter
XM_011519025.1:c.1495C>T	XP_011517327.1:p.Arg499Ter
XM_011519026.1:c.1597C>T	XP_011517328.1:p.Arg533Ter
XM_011519027.1:c.1597C>T	XP_011517329.1:p.Arg533Ter
XM_011519028.1:c.1597C>T	XP_011517330.1:p.Arg533Ter
XM_011519029.1:c.19C>T	XP_011517331.1:p.Arg7Ter
XM_011519033.1:c.1576C>T	XP_011517335.1:p.Arg526Ter
NM_001354259.1:c.1495C>T	NP_001341188.1:p.Arg499Ter
NM_001354263.1:c.1567C>T	NP_001341192.1:p.Arg523Ter
NM_001354611.1:c.1588C>T	NP_001341540.1:p.Arg530Ter
NM_001354612.1:c.1495C>T	NP_001341541.1:p.Arg499Ter
XM_005266105.5:c.1579C>T	XP_005266162.1:p.Arg527Ter
XM_011519021.3:c.1597C>T	XP_011517323.1:p.Arg533Ter
XM_011519022.3:c.1594C>T	XP_011517324.1:p.Arg532Ter
XM_011519023.3:c.1576C>T	XP_011517325.1:p.Arg526Ter
XM_011519029.3:c.19C>T	XP_011517331.1:p.Arg7Ter
XM_017015134.1:c.1573C>T	XP_016870623.1:p.Arg525Ter
XM_017015136.2:c.1489C>T	XP_016870625.1:p.Arg497Ter
XM_017015137.1:c.1474C>T	XP_016870626.1:p.Arg492Ter
XM_017015138.1:c.1474C>T	XP_016870627.1:p.Arg492Ter
XM_024447674.1:c.1417C>T	XP_024303442.1:p.Arg473Ter
XM_024447675.1:c.1495C>T	XP_024303443.1:p.Arg499Ter
XM_024447676.1:c.712C>T	XP_024303444.1:p.Arg238Ter
XM_024447677.1:c.712C>T	XP_024303445.1:p.Arg238Ter
XM_024447678.1:c.1495C>T	XP_024303446.1:p.Arg499Ter
XM_024447679.1:c.1495C>T	XP_024303447.1:p.Arg499Ter
XM_024447680.1:c.1474C>T	XP_024303448.1:p.Arg492Ter
NM_024757.5:c.1588C>T MANE Select	NP_079033.4:p.Arg530Ter
NM_001145527.2:c.1588C>T	NP_001138999.1:p.Arg530Ter
NM_001354259.2:c.1495C>T	NP_001341188.1:p.Arg499Ter
NM_001354263.2:c.1567C>T	NP_001341192.1:p.Arg523Ter
NM_001354611.2:c.1588C>T	NP_001341540.1:p.Arg530Ter
NM_001354612.2:c.1495C>T	NP_001341541.1:p.Arg499Ter