Canonical Allele Identifier: CA375765521

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140652334T>G (hg19) ; chr9:g.137757882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757882T>G , CM000671.2:g.137757882T>G	GRCh38
NC_000009.11:g.140652334T>G , CM000671.1:g.140652334T>G	GRCh37
NC_000009.10:g.139772155T>G	NCBI36
NG_011776.1:g.143891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1372T>G MANE Select	ENSP00000417980.1:p.Ser458Ala
ENST00000629335.2:c.1372T>G	ENSP00000490056.1:p.Ser458Ala
ENST00000636027.1:c.1258T>G	ENSP00000489961.1:p.Ser420Ala
ENST00000637161.1:c.1279T>G	ENSP00000490328.1:p.Ser427Ala
ENST00000637261.1:c.1412T>G	ENSP00000490815.1:n.1412T>G
ENST00000637977.1:c.1317T>G
ENST00000638071.1:c.999T>G
ENST00000640639.1:c.541T>G	ENSP00000491823.1:p.Ser181Ala
ENST00000371394.6:c.*1107T>G	ENSP00000485945.1:n.*1107T>G
ENST00000460843.5:c.1372T>G	ENSP00000417980.1:p.Ser458Ala
ENST00000462484.5:c.1372T>G	ENSP00000417328.1:p.Ser458Ala
ENST00000462942.3:c.229T>G	ENSP00000436107.1:p.Ser77Ala
ENST00000465566.2:c.64T>G	ENSP00000486261.1:p.Ser22Ala
ENST00000626066.2:c.1275T>G
ENST00000629808.2:c.465T>G
NM_001145527.1:c.1372T>G	NP_001138999.1:p.Ser458Ala
NM_024757.4:c.1372T>G	NP_079033.4:p.Ser458Ala
XM_005266105.3:c.1363T>G	XP_005266162.1:p.Ser455Ala
XM_005266110.1:c.1279T>G	XP_005266167.1:p.Ser427Ala
XM_006717288.2:c.1354T>G	XP_006717351.1:p.Ser452Ala
XM_011519021.1:c.1381T>G	XP_011517323.1:p.Ser461Ala
XM_011519022.1:c.1378T>G	XP_011517324.1:p.Ser460Ala
XM_011519023.1:c.1360T>G	XP_011517325.1:p.Ser454Ala
XM_011519024.1:c.1303T>G	XP_011517326.1:p.Ser435Ala
XM_011519025.1:c.1279T>G	XP_011517327.1:p.Ser427Ala
XM_011519026.1:c.1381T>G	XP_011517328.1:p.Ser461Ala
XM_011519027.1:c.1381T>G	XP_011517329.1:p.Ser461Ala
XM_011519028.1:c.1381T>G	XP_011517330.1:p.Ser461Ala
XM_011519033.1:c.1360T>G	XP_011517335.1:p.Ser454Ala
NM_001354259.1:c.1279T>G	NP_001341188.1:p.Ser427Ala
NM_001354263.1:c.1351T>G	NP_001341192.1:p.Ser451Ala
NM_001354611.1:c.1372T>G	NP_001341540.1:p.Ser458Ala
NM_001354612.1:c.1279T>G	NP_001341541.1:p.Ser427Ala
XM_005266105.5:c.1363T>G	XP_005266162.1:p.Ser455Ala
XM_011519021.3:c.1381T>G	XP_011517323.1:p.Ser461Ala
XM_011519022.3:c.1378T>G	XP_011517324.1:p.Ser460Ala
XM_011519023.3:c.1360T>G	XP_011517325.1:p.Ser454Ala
XM_017015134.1:c.1357T>G	XP_016870623.1:p.Ser453Ala
XM_017015136.2:c.1273T>G	XP_016870625.1:p.Ser425Ala
XM_017015137.1:c.1258T>G	XP_016870626.1:p.Ser420Ala
XM_017015138.1:c.1258T>G	XP_016870627.1:p.Ser420Ala
XM_024447674.1:c.1201T>G	XP_024303442.1:p.Ser401Ala
XM_024447675.1:c.1279T>G	XP_024303443.1:p.Ser427Ala
XM_024447676.1:c.496T>G	XP_024303444.1:p.Ser166Ala
XM_024447677.1:c.496T>G	XP_024303445.1:p.Ser166Ala
XM_024447678.1:c.1279T>G	XP_024303446.1:p.Ser427Ala
XM_024447679.1:c.1279T>G	XP_024303447.1:p.Ser427Ala
XM_024447680.1:c.1258T>G	XP_024303448.1:p.Ser420Ala
NM_024757.5:c.1372T>G MANE Select	NP_079033.4:p.Ser458Ala
NM_001145527.2:c.1372T>G	NP_001138999.1:p.Ser458Ala
NM_001354259.2:c.1279T>G	NP_001341188.1:p.Ser427Ala
NM_001354263.2:c.1351T>G	NP_001341192.1:p.Ser451Ala
NM_001354611.2:c.1372T>G	NP_001341540.1:p.Ser458Ala
NM_001354612.2:c.1279T>G	NP_001341541.1:p.Ser427Ala