Canonical Allele Identifier: CA375785689

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137790971G>A , CM000671.2:g.137790971G>A	GRCh38
NC_000009.11:g.140685423G>A , CM000671.1:g.140685423G>A	GRCh37
NC_000009.10:g.139805244G>A	NCBI36
NG_011776.1:g.176980G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.2505+1G>A MANE Select	NP_079033.4:n.2505+1G>A
ENST00000460843.6:c.2505+1G>A MANE Select	ENSP00000417980.1:n.2505+1G>A
NM_001354259.1:c.2412+1G>A	NP_001341188.1:n.2412+1G>A
NM_001354259.2:c.2412+1G>A	NP_001341188.1:n.2412+1G>A
NM_001354263.1:c.2484+1G>A	NP_001341192.1:n.2484+1G>A
NM_001354263.2:c.2484+1G>A	NP_001341192.1:n.2484+1G>A
NM_024757.4:c.2505+1G>A	NP_079033.4:n.2505+1G>A
ENST00000371394.6:c.*2240+1G>A	ENSP00000485945.1:n.*2240+1G>A
ENST00000460843.5:c.2505+1G>A	ENSP00000417980.1:n.2505+1G>A
ENST00000462942.3:c.1362+1G>A	ENSP00000436107.1:n.1362+1G>A
ENST00000482340.5:c.75+1G>A	ENSP00000486748.1:n.75+1G>A
ENST00000486164.5:c.83+1G>A
ENST00000493484.5:c.75+1G>A	ENSP00000486503.1:n.75+1G>A
ENST00000636027.1:c.2391+1G>A	ENSP00000489961.1:n.2391+1G>A
ENST00000636565.1:n.87+1G>A
ENST00000637161.1:c.2412+1G>A	ENSP00000490328.1:n.2412+1G>A
ENST00000637261.1:c.2545+1G>A	ENSP00000490815.1:n.2545+1G>A
ENST00000637891.1:c.399+1G>A	ENSP00000490907.1:n.399+1G>A
ENST00000637949.1:c.183+1G>A	ENSP00000489786.1:n.183+1G>A
XM_005266105.3:c.2496+1G>A	XP_005266162.1:n.2496+1G>A
XM_005266105.5:c.2496+1G>A	XP_005266162.1:n.2496+1G>A
XM_005266110.1:c.2412+1G>A	XP_005266167.1:n.2412+1G>A
XM_006717288.2:c.2487+1G>A	XP_006717351.1:n.2487+1G>A
XM_011519021.1:c.2514+1G>A	XP_011517323.1:n.2514+1G>A
XM_011519021.3:c.2514+1G>A	XP_011517323.1:n.2514+1G>A
XM_011519022.1:c.2511+1G>A	XP_011517324.1:n.2511+1G>A
XM_011519022.3:c.2511+1G>A	XP_011517324.1:n.2511+1G>A
XM_011519023.1:c.2493+1G>A	XP_011517325.1:n.2493+1G>A
XM_011519023.3:c.2493+1G>A	XP_011517325.1:n.2493+1G>A
XM_011519024.1:c.2436+1G>A	XP_011517326.1:n.2436+1G>A
XM_011519025.1:c.2412+1G>A	XP_011517327.1:n.2412+1G>A
XM_011519026.1:c.2370+1G>A	XP_011517328.1:n.2370+1G>A
XM_011519027.1:c.2514+1G>A	XP_011517329.1:n.2514+1G>A
XM_011519029.1:c.936+1G>A	XP_011517331.1:n.936+1G>A
XM_011519029.3:c.936+1G>A	XP_011517331.1:n.936+1G>A
XM_011519030.1:c.288+1G>A	XP_011517332.1:n.288+1G>A
XM_011519030.3:c.288+1G>A	XP_011517332.1:n.288+1G>A
XM_011519031.1:c.75+1G>A	XP_011517333.1:n.75+1G>A
XM_011519032.1:c.75+1G>A	XP_011517334.1:n.75+1G>A
XM_011519033.1:c.2349+1G>A	XP_011517335.1:n.2349+1G>A
XM_017015134.1:c.2490+1G>A	XP_016870623.1:n.2490+1G>A
XM_017015136.2:c.2406+1G>A	XP_016870625.1:n.2406+1G>A
XM_017015137.1:c.2391+1G>A	XP_016870626.1:n.2391+1G>A
XM_017015138.1:c.2391+1G>A	XP_016870627.1:n.2391+1G>A
XM_024447674.1:c.2334+1G>A	XP_024303442.1:n.2334+1G>A
XM_024447675.1:c.2268+1G>A	XP_024303443.1:n.2268+1G>A
XM_024447676.1:c.1629+1G>A	XP_024303444.1:n.1629+1G>A
XM_024447677.1:c.1629+1G>A	XP_024303445.1:n.1629+1G>A
XM_024447678.1:c.2412+1G>A	XP_024303446.1:n.2412+1G>A
XM_024447680.1:c.2247+1G>A	XP_024303448.1:n.2247+1G>A