Canonical Allele Identifier: CA375766136

Gene: EHMT1

Linked Data

• dbSNP Id: rs1949507724
• gnomAD v4: 9-137757949-T-C
• MyVariant Identifiers: chr9:g.140652401T>C (hg19) ; chr9:g.137757949T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757949T>C , CM000671.2:g.137757949T>C	GRCh38
NC_000009.11:g.140652401T>C , CM000671.1:g.140652401T>C	GRCh37
NC_000009.10:g.139772222T>C	NCBI36
NG_011776.1:g.143958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1439T>C MANE Select	ENSP00000417980.1:p.Met480Thr
ENST00000629335.2:c.1439T>C	ENSP00000490056.1:p.Met480Thr
ENST00000636027.1:c.1325T>C	ENSP00000489961.1:p.Met442Thr
ENST00000637161.1:c.1346T>C	ENSP00000490328.1:p.Met449Thr
ENST00000637261.1:c.1479T>C	ENSP00000490815.1:n.1479T>C
ENST00000637977.1:c.1384T>C
ENST00000638071.1:c.1066T>C
ENST00000640639.1:c.608T>C	ENSP00000491823.1:p.Met203Thr
ENST00000371394.6:c.*1174T>C	ENSP00000485945.1:n.*1174T>C
ENST00000460843.5:c.1439T>C	ENSP00000417980.1:p.Met480Thr
ENST00000462484.5:c.1439T>C	ENSP00000417328.1:p.Met480Thr
ENST00000462942.3:c.296T>C	ENSP00000436107.1:p.Met99Thr
ENST00000465566.2:c.131T>C	ENSP00000486261.1:p.Met44Thr
ENST00000629808.2:c.532T>C
NM_001145527.1:c.1439T>C	NP_001138999.1:p.Met480Thr
NM_024757.4:c.1439T>C	NP_079033.4:p.Met480Thr
XM_005266105.3:c.1430T>C	XP_005266162.1:p.Met477Thr
XM_005266110.1:c.1346T>C	XP_005266167.1:p.Met449Thr
XM_006717288.2:c.1421T>C	XP_006717351.1:p.Met474Thr
XM_011519021.1:c.1448T>C	XP_011517323.1:p.Met483Thr
XM_011519022.1:c.1445T>C	XP_011517324.1:p.Met482Thr
XM_011519023.1:c.1427T>C	XP_011517325.1:p.Met476Thr
XM_011519024.1:c.1370T>C	XP_011517326.1:p.Met457Thr
XM_011519025.1:c.1346T>C	XP_011517327.1:p.Met449Thr
XM_011519026.1:c.1448T>C	XP_011517328.1:p.Met483Thr
XM_011519027.1:c.1448T>C	XP_011517329.1:p.Met483Thr
XM_011519028.1:c.1448T>C	XP_011517330.1:p.Met483Thr
XM_011519033.1:c.1427T>C	XP_011517335.1:p.Met476Thr
NM_001354259.1:c.1346T>C	NP_001341188.1:p.Met449Thr
NM_001354263.1:c.1418T>C	NP_001341192.1:p.Met473Thr
NM_001354611.1:c.1439T>C	NP_001341540.1:p.Met480Thr
NM_001354612.1:c.1346T>C	NP_001341541.1:p.Met449Thr
XM_005266105.5:c.1430T>C	XP_005266162.1:p.Met477Thr
XM_011519021.3:c.1448T>C	XP_011517323.1:p.Met483Thr
XM_011519022.3:c.1445T>C	XP_011517324.1:p.Met482Thr
XM_011519023.3:c.1427T>C	XP_011517325.1:p.Met476Thr
XM_017015134.1:c.1424T>C	XP_016870623.1:p.Met475Thr
XM_017015136.2:c.1340T>C	XP_016870625.1:p.Met447Thr
XM_017015137.1:c.1325T>C	XP_016870626.1:p.Met442Thr
XM_017015138.1:c.1325T>C	XP_016870627.1:p.Met442Thr
XM_024447674.1:c.1268T>C	XP_024303442.1:p.Met423Thr
XM_024447675.1:c.1346T>C	XP_024303443.1:p.Met449Thr
XM_024447676.1:c.563T>C	XP_024303444.1:p.Met188Thr
XM_024447677.1:c.563T>C	XP_024303445.1:p.Met188Thr
XM_024447678.1:c.1346T>C	XP_024303446.1:p.Met449Thr
XM_024447679.1:c.1346T>C	XP_024303447.1:p.Met449Thr
XM_024447680.1:c.1325T>C	XP_024303448.1:p.Met442Thr
NM_024757.5:c.1439T>C MANE Select	NP_079033.4:p.Met480Thr
NM_001145527.2:c.1439T>C	NP_001138999.1:p.Met480Thr
NM_001354259.2:c.1346T>C	NP_001341188.1:p.Met449Thr
NM_001354263.2:c.1418T>C	NP_001341192.1:p.Met473Thr
NM_001354611.2:c.1439T>C	NP_001341540.1:p.Met480Thr
NM_001354612.2:c.1346T>C	NP_001341541.1:p.Met449Thr