Canonical Allele Identifier: CA375794614

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813520C>T , CM000671.2:g.137813520C>T	GRCh38
NC_000009.11:g.140707972C>T , CM000671.1:g.140707972C>T	GRCh37
NC_000009.10:g.139827793C>T	NCBI36
NG_011776.1:g.199529C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.3170C>T MANE Select	NP_079033.4:p.Thr1057Ile
ENST00000460843.6:c.3170C>T MANE Select	ENSP00000417980.1:p.Thr1057Ile
NM_001354263.1:c.3149C>T	NP_001341192.1:p.Thr1050Ile
NM_001354263.2:c.3149C>T	NP_001341192.1:p.Thr1050Ile
NM_024757.4:c.3170C>T	NP_079033.4:p.Thr1057Ile
ENST00000460843.5:c.3170C>T	ENSP00000417980.1:p.Thr1057Ile
ENST00000462942.3:c.2027C>T	ENSP00000436107.1:p.Thr676Ile
ENST00000483653.1:n.30C>T
ENST00000488242.2:n.696C>T
ENST00000637161.1:c.3077C>T	ENSP00000490328.1:p.Thr1026Ile
ENST00000637261.1:c.3210C>T	ENSP00000490815.1:n.3210C>T
ENST00000637891.1:c.1064C>T	ENSP00000490907.1:p.Thr355Ile
XM_005266105.3:c.3161C>T	XP_005266162.1:p.Thr1054Ile
XM_005266105.5:c.3161C>T	XP_005266162.1:p.Thr1054Ile
XM_005266110.1:c.3077C>T	XP_005266167.1:p.Thr1026Ile
XM_006717288.2:c.3152C>T	XP_006717351.1:p.Thr1051Ile
XM_011519021.1:c.3179C>T	XP_011517323.1:p.Thr1060Ile
XM_011519021.3:c.3179C>T	XP_011517323.1:p.Thr1060Ile
XM_011519022.1:c.3176C>T	XP_011517324.1:p.Thr1059Ile
XM_011519022.3:c.3176C>T	XP_011517324.1:p.Thr1059Ile
XM_011519023.1:c.3158C>T	XP_011517325.1:p.Thr1053Ile
XM_011519023.3:c.3158C>T	XP_011517325.1:p.Thr1053Ile
XM_011519024.1:c.3101C>T	XP_011517326.1:p.Thr1034Ile
XM_011519025.1:c.3077C>T	XP_011517327.1:p.Thr1026Ile
XM_011519026.1:c.3035C>T	XP_011517328.1:p.Thr1012Ile
XM_011519029.1:c.1601C>T	XP_011517331.1:p.Thr534Ile
XM_011519029.3:c.1601C>T	XP_011517331.1:p.Thr534Ile
XM_011519030.1:c.953C>T	XP_011517332.1:p.Thr318Ile
XM_011519030.3:c.953C>T	XP_011517332.1:p.Thr318Ile
XM_011519031.1:c.740C>T	XP_011517333.1:p.Thr247Ile
XM_011519032.1:c.740C>T	XP_011517334.1:p.Thr247Ile
XM_011519033.1:c.3014C>T	XP_011517335.1:p.Thr1005Ile
XM_017015134.1:c.3155C>T	XP_016870623.1:p.Thr1052Ile
XM_017015136.2:c.3071C>T	XP_016870625.1:p.Thr1024Ile
XM_017015137.1:c.3056C>T	XP_016870626.1:p.Thr1019Ile
XM_017015138.1:c.3056C>T	XP_016870627.1:p.Thr1019Ile
XM_024447674.1:c.2999C>T	XP_024303442.1:p.Thr1000Ile
XM_024447675.1:c.2933C>T	XP_024303443.1:p.Thr978Ile
XM_024447676.1:c.2294C>T	XP_024303444.1:p.Thr765Ile
XM_024447677.1:c.2294C>T	XP_024303445.1:p.Thr765Ile
XM_024447680.1:c.2912C>T	XP_024303448.1:p.Thr971Ile