Canonical Allele Identifier: CA345060

Gene: EHMT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813531G>T , CM000671.2:g.137813531G>T	GRCh38
NC_000009.11:g.140707983G>T , CM000671.1:g.140707983G>T	GRCh37
NC_000009.10:g.139827804G>T	NCBI36
NG_011776.1:g.199540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3180+1G>T MANE Select	ENSP00000417980.1:n.3180+1G>T
ENST00000637161.1:c.3087+1G>T	ENSP00000490328.1:n.3087+1G>T
ENST00000637261.1:c.3220+1G>T	ENSP00000490815.1:n.3220+1G>T
ENST00000637891.1:c.1074+1G>T	ENSP00000490907.1:n.1074+1G>T
ENST00000460843.5:c.3180+1G>T	ENSP00000417980.1:n.3180+1G>T
ENST00000462942.3:c.2037+1G>T	ENSP00000436107.1:n.2037+1G>T
ENST00000483653.1:n.40+1G>T
ENST00000488242.2:n.706+1G>T
NM_024757.4:c.3180+1G>T	NP_079033.4:n.3180+1G>T
XM_005266105.3:c.3171+1G>T	XP_005266162.1:n.3171+1G>T
XM_005266110.1:c.3087+1G>T	XP_005266167.1:n.3087+1G>T
XM_006717288.2:c.3162+1G>T	XP_006717351.1:n.3162+1G>T
XM_011519021.1:c.3189+1G>T	XP_011517323.1:n.3189+1G>T
XM_011519022.1:c.3186+1G>T	XP_011517324.1:n.3186+1G>T
XM_011519023.1:c.3168+1G>T	XP_011517325.1:n.3168+1G>T
XM_011519024.1:c.3111+1G>T	XP_011517326.1:n.3111+1G>T
XM_011519025.1:c.3087+1G>T	XP_011517327.1:n.3087+1G>T
XM_011519026.1:c.3045+1G>T	XP_011517328.1:n.3045+1G>T
XM_011519029.1:c.1611+1G>T	XP_011517331.1:n.1611+1G>T
XM_011519030.1:c.963+1G>T	XP_011517332.1:n.963+1G>T
XM_011519031.1:c.750+1G>T	XP_011517333.1:n.750+1G>T
XM_011519032.1:c.750+1G>T	XP_011517334.1:n.750+1G>T
XM_011519033.1:c.3024+1G>T	XP_011517335.1:n.3024+1G>T
NM_001354263.1:c.3159+1G>T	NP_001341192.1:n.3159+1G>T
XM_005266105.5:c.3171+1G>T	XP_005266162.1:n.3171+1G>T
XM_011519021.3:c.3189+1G>T	XP_011517323.1:n.3189+1G>T
XM_011519022.3:c.3186+1G>T	XP_011517324.1:n.3186+1G>T
XM_011519023.3:c.3168+1G>T	XP_011517325.1:n.3168+1G>T
XM_011519029.3:c.1611+1G>T	XP_011517331.1:n.1611+1G>T
XM_011519030.3:c.963+1G>T	XP_011517332.1:n.963+1G>T
XM_017015134.1:c.3165+1G>T	XP_016870623.1:n.3165+1G>T
XM_017015136.2:c.3081+1G>T	XP_016870625.1:n.3081+1G>T
XM_017015137.1:c.3066+1G>T	XP_016870626.1:n.3066+1G>T
XM_017015138.1:c.3066+1G>T	XP_016870627.1:n.3066+1G>T
XM_024447674.1:c.3009+1G>T	XP_024303442.1:n.3009+1G>T
XM_024447675.1:c.2943+1G>T	XP_024303443.1:n.2943+1G>T
XM_024447676.1:c.2304+1G>T	XP_024303444.1:n.2304+1G>T
XM_024447677.1:c.2304+1G>T	XP_024303445.1:n.2304+1G>T
XM_024447680.1:c.2922+1G>T	XP_024303448.1:n.2922+1G>T
NM_024757.5:c.3180+1G>T MANE Select	NP_079033.4:n.3180+1G>T
NM_001354263.2:c.3159+1G>T	NP_001341192.1:n.3159+1G>T