Canonical Allele Identifier: CA375796480

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137816001T>C , CM000671.2:g.137816001T>C	GRCh38
NC_000009.11:g.140710453T>C , CM000671.1:g.140710453T>C	GRCh37
NC_000009.10:g.139830274T>C	NCBI36
NG_011776.1:g.202010T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3313T>C MANE Select	NP_079033.4:p.Cys1105Arg
ENST00000460843.6:c.3313T>C MANE Select	ENSP00000417980.1:p.Cys1105Arg
NM_001354263.1:c.3292T>C	NP_001341192.1:p.Cys1098Arg
NM_001354263.2:c.3292T>C	NP_001341192.1:p.Cys1098Arg
NM_024757.4:c.3313T>C	NP_079033.4:p.Cys1105Arg
ENST00000460843.5:c.3313T>C	ENSP00000417980.1:p.Cys1105Arg
ENST00000462942.3:c.2170T>C	ENSP00000436107.1:p.Cys724Arg
ENST00000494249.5:n.666T>C
ENST00000635741.1:n.2T>C
ENST00000637161.1:c.3220T>C	ENSP00000490328.1:p.Cys1074Arg
ENST00000637261.1:c.3353T>C	ENSP00000490815.1:n.3353T>C
ENST00000637748.1:n.250T>C
ENST00000637891.1:c.1387T>C	ENSP00000490907.1:n.1387T>C
XM_005266105.3:c.3304T>C	XP_005266162.1:p.Cys1102Arg
XM_005266105.5:c.3304T>C	XP_005266162.1:p.Cys1102Arg
XM_005266110.1:c.3220T>C	XP_005266167.1:p.Cys1074Arg
XM_006717288.2:c.3295T>C	XP_006717351.1:p.Cys1099Arg
XM_011519021.1:c.3322T>C	XP_011517323.1:p.Cys1108Arg
XM_011519021.3:c.3322T>C	XP_011517323.1:p.Cys1108Arg
XM_011519022.1:c.3319T>C	XP_011517324.1:p.Cys1107Arg
XM_011519022.3:c.3319T>C	XP_011517324.1:p.Cys1107Arg
XM_011519023.1:c.3301T>C	XP_011517325.1:p.Cys1101Arg
XM_011519023.3:c.3301T>C	XP_011517325.1:p.Cys1101Arg
XM_011519024.1:c.3244T>C	XP_011517326.1:p.Cys1082Arg
XM_011519025.1:c.3220T>C	XP_011517327.1:p.Cys1074Arg
XM_011519026.1:c.3178T>C	XP_011517328.1:p.Cys1060Arg
XM_011519029.1:c.1744T>C	XP_011517331.1:p.Cys582Arg
XM_011519029.3:c.1744T>C	XP_011517331.1:p.Cys582Arg
XM_011519030.1:c.1096T>C	XP_011517332.1:p.Cys366Arg
XM_011519030.3:c.1096T>C	XP_011517332.1:p.Cys366Arg
XM_011519031.1:c.883T>C	XP_011517333.1:p.Cys295Arg
XM_011519032.1:c.883T>C	XP_011517334.1:p.Cys295Arg
XM_011519033.1:c.3157T>C	XP_011517335.1:p.Cys1053Arg
XM_017015134.1:c.3298T>C	XP_016870623.1:p.Cys1100Arg
XM_017015136.2:c.3214T>C	XP_016870625.1:p.Cys1072Arg
XM_017015137.1:c.3199T>C	XP_016870626.1:p.Cys1067Arg
XM_017015138.1:c.3199T>C	XP_016870627.1:p.Cys1067Arg
XM_024447674.1:c.3142T>C	XP_024303442.1:p.Cys1048Arg
XM_024447675.1:c.3076T>C	XP_024303443.1:p.Cys1026Arg
XM_024447676.1:c.2437T>C	XP_024303444.1:p.Cys813Arg
XM_024447677.1:c.2437T>C	XP_024303445.1:p.Cys813Arg
XM_024447680.1:c.3055T>C	XP_024303448.1:p.Cys1019Arg
XR_930459.1:n.5297-1439A>G