Canonical Allele Identifier: CA375766150

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140652402G>C (hg19) ; chr9:g.137757950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757950G>C , CM000671.2:g.137757950G>C	GRCh38
NC_000009.11:g.140652402G>C , CM000671.1:g.140652402G>C	GRCh37
NC_000009.10:g.139772223G>C	NCBI36
NG_011776.1:g.143959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1440G>C MANE Select	ENSP00000417980.1:p.Met480Ile
ENST00000629335.2:c.1440G>C	ENSP00000490056.1:p.Met480Ile
ENST00000636027.1:c.1326G>C	ENSP00000489961.1:p.Met442Ile
ENST00000637161.1:c.1347G>C	ENSP00000490328.1:p.Met449Ile
ENST00000637261.1:c.1480G>C	ENSP00000490815.1:n.1480G>C
ENST00000637977.1:c.1385G>C
ENST00000638071.1:c.1067G>C
ENST00000640639.1:c.609G>C	ENSP00000491823.1:p.Met203Ile
ENST00000371394.6:c.*1175G>C	ENSP00000485945.1:n.*1175G>C
ENST00000460843.5:c.1440G>C	ENSP00000417980.1:p.Met480Ile
ENST00000462484.5:c.1440G>C	ENSP00000417328.1:p.Met480Ile
ENST00000462942.3:c.297G>C	ENSP00000436107.1:p.Met99Ile
ENST00000465566.2:c.132G>C	ENSP00000486261.1:p.Met44Ile
ENST00000629808.2:c.533G>C
NM_001145527.1:c.1440G>C	NP_001138999.1:p.Met480Ile
NM_024757.4:c.1440G>C	NP_079033.4:p.Met480Ile
XM_005266105.3:c.1431G>C	XP_005266162.1:p.Met477Ile
XM_005266110.1:c.1347G>C	XP_005266167.1:p.Met449Ile
XM_006717288.2:c.1422G>C	XP_006717351.1:p.Met474Ile
XM_011519021.1:c.1449G>C	XP_011517323.1:p.Met483Ile
XM_011519022.1:c.1446G>C	XP_011517324.1:p.Met482Ile
XM_011519023.1:c.1428G>C	XP_011517325.1:p.Met476Ile
XM_011519024.1:c.1371G>C	XP_011517326.1:p.Met457Ile
XM_011519025.1:c.1347G>C	XP_011517327.1:p.Met449Ile
XM_011519026.1:c.1449G>C	XP_011517328.1:p.Met483Ile
XM_011519027.1:c.1449G>C	XP_011517329.1:p.Met483Ile
XM_011519028.1:c.1449G>C	XP_011517330.1:p.Met483Ile
XM_011519033.1:c.1428G>C	XP_011517335.1:p.Met476Ile
NM_001354259.1:c.1347G>C	NP_001341188.1:p.Met449Ile
NM_001354263.1:c.1419G>C	NP_001341192.1:p.Met473Ile
NM_001354611.1:c.1440G>C	NP_001341540.1:p.Met480Ile
NM_001354612.1:c.1347G>C	NP_001341541.1:p.Met449Ile
XM_005266105.5:c.1431G>C	XP_005266162.1:p.Met477Ile
XM_011519021.3:c.1449G>C	XP_011517323.1:p.Met483Ile
XM_011519022.3:c.1446G>C	XP_011517324.1:p.Met482Ile
XM_011519023.3:c.1428G>C	XP_011517325.1:p.Met476Ile
XM_017015134.1:c.1425G>C	XP_016870623.1:p.Met475Ile
XM_017015136.2:c.1341G>C	XP_016870625.1:p.Met447Ile
XM_017015137.1:c.1326G>C	XP_016870626.1:p.Met442Ile
XM_017015138.1:c.1326G>C	XP_016870627.1:p.Met442Ile
XM_024447674.1:c.1269G>C	XP_024303442.1:p.Met423Ile
XM_024447675.1:c.1347G>C	XP_024303443.1:p.Met449Ile
XM_024447676.1:c.564G>C	XP_024303444.1:p.Met188Ile
XM_024447677.1:c.564G>C	XP_024303445.1:p.Met188Ile
XM_024447678.1:c.1347G>C	XP_024303446.1:p.Met449Ile
XM_024447679.1:c.1347G>C	XP_024303447.1:p.Met449Ile
XM_024447680.1:c.1326G>C	XP_024303448.1:p.Met442Ile
NM_024757.5:c.1440G>C MANE Select	NP_079033.4:p.Met480Ile
NM_001145527.2:c.1440G>C	NP_001138999.1:p.Met480Ile
NM_001354259.2:c.1347G>C	NP_001341188.1:p.Met449Ile
NM_001354263.2:c.1419G>C	NP_001341192.1:p.Met473Ile
NM_001354611.2:c.1440G>C	NP_001341540.1:p.Met480Ile
NM_001354612.2:c.1347G>C	NP_001341541.1:p.Met449Ile