Canonical Allele Identifier: CA375777003

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137776828-G-T
• MyVariant Identifiers: chr9:g.140671280G>T (hg19) ; chr9:g.137776828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776828G>T , CM000671.2:g.137776828G>T	GRCh38
NC_000009.11:g.140671280G>T , CM000671.1:g.140671280G>T	GRCh37
NC_000009.10:g.139791101G>T	NCBI36
NG_011776.1:g.162837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2002G>T MANE Select	ENSP00000417980.1:p.Asp668Tyr
ENST00000636027.1:c.1888G>T	ENSP00000489961.1:p.Asp630Tyr
ENST00000637161.1:c.1909G>T	ENSP00000490328.1:p.Asp637Tyr
ENST00000637261.1:c.2042G>T	ENSP00000490815.1:n.2042G>T
ENST00000638071.1:c.1629G>T
ENST00000640639.1:c.1171G>T	ENSP00000491823.1:p.Asp391Tyr
ENST00000371394.6:c.*1737G>T	ENSP00000485945.1:n.*1737G>T
ENST00000460843.5:c.2002G>T	ENSP00000417980.1:p.Asp668Tyr
ENST00000462484.5:c.2002G>T	ENSP00000417328.1:p.Asp668Tyr
ENST00000462942.3:c.859G>T	ENSP00000436107.1:p.Asp287Tyr
ENST00000626603.1:n.1621C>A
NM_001145527.1:c.2002G>T	NP_001138999.1:p.Asp668Tyr
NM_024757.4:c.2002G>T	NP_079033.4:p.Asp668Tyr
XM_005266105.3:c.1993G>T	XP_005266162.1:p.Asp665Tyr
XM_005266110.1:c.1909G>T	XP_005266167.1:p.Asp637Tyr
XM_006717288.2:c.1984G>T	XP_006717351.1:p.Asp662Tyr
XM_011519021.1:c.2011G>T	XP_011517323.1:p.Asp671Tyr
XM_011519022.1:c.2008G>T	XP_011517324.1:p.Asp670Tyr
XM_011519023.1:c.1990G>T	XP_011517325.1:p.Asp664Tyr
XM_011519024.1:c.1933G>T	XP_011517326.1:p.Asp645Tyr
XM_011519025.1:c.1909G>T	XP_011517327.1:p.Asp637Tyr
XM_011519026.1:c.1867G>T	XP_011517328.1:p.Asp623Tyr
XM_011519027.1:c.2011G>T	XP_011517329.1:p.Asp671Tyr
XM_011519028.1:c.2011G>T	XP_011517330.1:p.Asp671Tyr
XM_011519029.1:c.433G>T	XP_011517331.1:p.Asp145Tyr
XM_011519033.1:c.1846G>T	XP_011517335.1:p.Asp616Tyr
NM_001354259.1:c.1909G>T	NP_001341188.1:p.Asp637Tyr
NM_001354263.1:c.1981G>T	NP_001341192.1:p.Asp661Tyr
XM_005266105.5:c.1993G>T	XP_005266162.1:p.Asp665Tyr
XM_011519021.3:c.2011G>T	XP_011517323.1:p.Asp671Tyr
XM_011519022.3:c.2008G>T	XP_011517324.1:p.Asp670Tyr
XM_011519023.3:c.1990G>T	XP_011517325.1:p.Asp664Tyr
XM_011519029.3:c.433G>T	XP_011517331.1:p.Asp145Tyr
XM_017015134.1:c.1987G>T	XP_016870623.1:p.Asp663Tyr
XM_017015136.2:c.1903G>T	XP_016870625.1:p.Asp635Tyr
XM_017015137.1:c.1888G>T	XP_016870626.1:p.Asp630Tyr
XM_017015138.1:c.1888G>T	XP_016870627.1:p.Asp630Tyr
XM_024447674.1:c.1831G>T	XP_024303442.1:p.Asp611Tyr
XM_024447675.1:c.1765G>T	XP_024303443.1:p.Asp589Tyr
XM_024447676.1:c.1126G>T	XP_024303444.1:p.Asp376Tyr
XM_024447677.1:c.1126G>T	XP_024303445.1:p.Asp376Tyr
XM_024447678.1:c.1909G>T	XP_024303446.1:p.Asp637Tyr
XM_024447679.1:c.1909G>T	XP_024303447.1:p.Asp637Tyr
XM_024447680.1:c.1744G>T	XP_024303448.1:p.Asp582Tyr
NM_024757.5:c.2002G>T MANE Select	NP_079033.4:p.Asp668Tyr
NM_001145527.2:c.2002G>T	NP_001138999.1:p.Asp668Tyr
NM_001354259.2:c.1909G>T	NP_001341188.1:p.Asp637Tyr
NM_001354263.2:c.1981G>T	NP_001341192.1:p.Asp661Tyr