Canonical Allele Identifier: CA375776862

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137776802-A-C
• MyVariant Identifiers: chr9:g.140671254A>C (hg19) ; chr9:g.137776802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776802A>C , CM000671.2:g.137776802A>C	GRCh38
NC_000009.11:g.140671254A>C , CM000671.1:g.140671254A>C	GRCh37
NC_000009.10:g.139791075A>C	NCBI36
NG_011776.1:g.162811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1976A>C MANE Select	ENSP00000417980.1:p.Lys659Thr
ENST00000636027.1:c.1862A>C	ENSP00000489961.1:p.Lys621Thr
ENST00000637161.1:c.1883A>C	ENSP00000490328.1:p.Lys628Thr
ENST00000637261.1:c.2016A>C	ENSP00000490815.1:n.2016A>C
ENST00000638071.1:c.1603A>C
ENST00000640639.1:c.1145A>C	ENSP00000491823.1:p.Lys382Thr
ENST00000371394.6:c.*1711A>C	ENSP00000485945.1:n.*1711A>C
ENST00000460843.5:c.1976A>C	ENSP00000417980.1:p.Lys659Thr
ENST00000462484.5:c.1976A>C	ENSP00000417328.1:p.Lys659Thr
ENST00000462942.3:c.833A>C	ENSP00000436107.1:p.Lys278Thr
ENST00000626603.1:n.1647T>G
NM_001145527.1:c.1976A>C	NP_001138999.1:p.Lys659Thr
NM_024757.4:c.1976A>C	NP_079033.4:p.Lys659Thr
XM_005266105.3:c.1967A>C	XP_005266162.1:p.Lys656Thr
XM_005266110.1:c.1883A>C	XP_005266167.1:p.Lys628Thr
XM_006717288.2:c.1958A>C	XP_006717351.1:p.Lys653Thr
XM_011519021.1:c.1985A>C	XP_011517323.1:p.Lys662Thr
XM_011519022.1:c.1982A>C	XP_011517324.1:p.Lys661Thr
XM_011519023.1:c.1964A>C	XP_011517325.1:p.Lys655Thr
XM_011519024.1:c.1907A>C	XP_011517326.1:p.Lys636Thr
XM_011519025.1:c.1883A>C	XP_011517327.1:p.Lys628Thr
XM_011519026.1:c.1841A>C	XP_011517328.1:p.Lys614Thr
XM_011519027.1:c.1985A>C	XP_011517329.1:p.Lys662Thr
XM_011519028.1:c.1985A>C	XP_011517330.1:p.Lys662Thr
XM_011519029.1:c.407A>C	XP_011517331.1:p.Lys136Thr
XM_011519033.1:c.1820A>C	XP_011517335.1:p.Lys607Thr
NM_001354259.1:c.1883A>C	NP_001341188.1:p.Lys628Thr
NM_001354263.1:c.1955A>C	NP_001341192.1:p.Lys652Thr
XM_005266105.5:c.1967A>C	XP_005266162.1:p.Lys656Thr
XM_011519021.3:c.1985A>C	XP_011517323.1:p.Lys662Thr
XM_011519022.3:c.1982A>C	XP_011517324.1:p.Lys661Thr
XM_011519023.3:c.1964A>C	XP_011517325.1:p.Lys655Thr
XM_011519029.3:c.407A>C	XP_011517331.1:p.Lys136Thr
XM_017015134.1:c.1961A>C	XP_016870623.1:p.Lys654Thr
XM_017015136.2:c.1877A>C	XP_016870625.1:p.Lys626Thr
XM_017015137.1:c.1862A>C	XP_016870626.1:p.Lys621Thr
XM_017015138.1:c.1862A>C	XP_016870627.1:p.Lys621Thr
XM_024447674.1:c.1805A>C	XP_024303442.1:p.Lys602Thr
XM_024447675.1:c.1739A>C	XP_024303443.1:p.Lys580Thr
XM_024447676.1:c.1100A>C	XP_024303444.1:p.Lys367Thr
XM_024447677.1:c.1100A>C	XP_024303445.1:p.Lys367Thr
XM_024447678.1:c.1883A>C	XP_024303446.1:p.Lys628Thr
XM_024447679.1:c.1883A>C	XP_024303447.1:p.Lys628Thr
XM_024447680.1:c.1718A>C	XP_024303448.1:p.Lys573Thr
NM_024757.5:c.1976A>C MANE Select	NP_079033.4:p.Lys659Thr
NM_001145527.2:c.1976A>C	NP_001138999.1:p.Lys659Thr
NM_001354259.2:c.1883A>C	NP_001341188.1:p.Lys628Thr
NM_001354263.2:c.1955A>C	NP_001341192.1:p.Lys652Thr