Canonical Allele Identifier: CA358187

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 225043
• ClinVar RCV Id: RCV000210678 ; RCV001853375
• dbSNP Id: rs869312936
• COSMIC: COSM3656085 ; COSM3656086
• MyVariant Identifiers: chr9:g.140648681C>T (hg19) ; chr9:g.137754229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137754229C>T , CM000671.2:g.137754229C>T	GRCh38
NC_000009.11:g.140648681C>T , CM000671.1:g.140648681C>T	GRCh37
NC_000009.10:g.139768502C>T	NCBI36
NG_011776.1:g.140238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1307C>T MANE Select	ENSP00000417980.1:p.Pro436Leu
ENST00000629335.2:c.1307C>T	ENSP00000490056.1:p.Pro436Leu
ENST00000636027.1:c.1193C>T	ENSP00000489961.1:p.Pro398Leu
ENST00000637161.1:c.1214C>T	ENSP00000490328.1:p.Pro405Leu
ENST00000637261.1:c.1347C>T	ENSP00000490815.1:n.1347C>T
ENST00000637977.1:c.1252C>T
ENST00000638071.1:c.934C>T
ENST00000640639.1:c.476C>T	ENSP00000491823.1:p.Pro159Leu
ENST00000371394.6:c.*1042C>T	ENSP00000485945.1:n.*1042C>T
ENST00000460843.5:c.1307C>T	ENSP00000417980.1:p.Pro436Leu
ENST00000462484.5:c.1307C>T	ENSP00000417328.1:p.Pro436Leu
ENST00000462942.3:c.164C>T	ENSP00000436107.1:p.Pro55Leu
ENST00000626066.2:c.1210C>T
ENST00000629808.2:c.400C>T
NM_001145527.1:c.1307C>T	NP_001138999.1:p.Pro436Leu
NM_024757.4:c.1307C>T	NP_079033.4:p.Pro436Leu
XM_005266105.3:c.1298C>T	XP_005266162.1:p.Pro433Leu
XM_005266110.1:c.1214C>T	XP_005266167.1:p.Pro405Leu
XM_006717288.2:c.1289C>T	XP_006717351.1:p.Pro430Leu
XM_011519021.1:c.1316C>T	XP_011517323.1:p.Pro439Leu
XM_011519022.1:c.1313C>T	XP_011517324.1:p.Pro438Leu
XM_011519023.1:c.1295C>T	XP_011517325.1:p.Pro432Leu
XM_011519024.1:c.1238C>T	XP_011517326.1:p.Pro413Leu
XM_011519025.1:c.1214C>T	XP_011517327.1:p.Pro405Leu
XM_011519026.1:c.1316C>T	XP_011517328.1:p.Pro439Leu
XM_011519027.1:c.1316C>T	XP_011517329.1:p.Pro439Leu
XM_011519028.1:c.1316C>T	XP_011517330.1:p.Pro439Leu
XM_011519033.1:c.1295C>T	XP_011517335.1:p.Pro432Leu
NM_001354259.1:c.1214C>T	NP_001341188.1:p.Pro405Leu
NM_001354263.1:c.1286C>T	NP_001341192.1:p.Pro429Leu
NM_001354611.1:c.1307C>T	NP_001341540.1:p.Pro436Leu
NM_001354612.1:c.1214C>T	NP_001341541.1:p.Pro405Leu
XM_005266105.5:c.1298C>T	XP_005266162.1:p.Pro433Leu
XM_011519021.3:c.1316C>T	XP_011517323.1:p.Pro439Leu
XM_011519022.3:c.1313C>T	XP_011517324.1:p.Pro438Leu
XM_011519023.3:c.1295C>T	XP_011517325.1:p.Pro432Leu
XM_017015134.1:c.1292C>T	XP_016870623.1:p.Pro431Leu
XM_017015136.2:c.1208C>T	XP_016870625.1:p.Pro403Leu
XM_017015137.1:c.1193C>T	XP_016870626.1:p.Pro398Leu
XM_017015138.1:c.1193C>T	XP_016870627.1:p.Pro398Leu
XM_024447674.1:c.1136C>T	XP_024303442.1:p.Pro379Leu
XM_024447675.1:c.1214C>T	XP_024303443.1:p.Pro405Leu
XM_024447676.1:c.431C>T	XP_024303444.1:p.Pro144Leu
XM_024447677.1:c.431C>T	XP_024303445.1:p.Pro144Leu
XM_024447678.1:c.1214C>T	XP_024303446.1:p.Pro405Leu
XM_024447679.1:c.1214C>T	XP_024303447.1:p.Pro405Leu
XM_024447680.1:c.1193C>T	XP_024303448.1:p.Pro398Leu
NM_024757.5:c.1307C>T MANE Select	NP_079033.4:p.Pro436Leu
NM_001145527.2:c.1307C>T	NP_001138999.1:p.Pro436Leu
NM_001354259.2:c.1214C>T	NP_001341188.1:p.Pro405Leu
NM_001354263.2:c.1286C>T	NP_001341192.1:p.Pro429Leu
NM_001354611.2:c.1307C>T	NP_001341540.1:p.Pro436Leu
NM_001354612.2:c.1214C>T	NP_001341541.1:p.Pro405Leu