Canonical Allele Identifier: CA375773840

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140712573T>C (hg19) ; chr9:g.137818121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818121T>C , CM000671.2:g.137818121T>C	GRCh38
NC_000009.11:g.140712573T>C , CM000671.1:g.140712573T>C	GRCh37
NC_000009.10:g.139832394T>C	NCBI36
NG_011776.1:g.204130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3523T>C MANE Select	ENSP00000417980.1:p.Phe1175Leu
ENST00000636472.1:n.85T>C
ENST00000636526.1:n.9T>C
ENST00000637161.1:c.3430T>C	ENSP00000490328.1:p.Phe1144Leu
ENST00000637261.1:c.4097T>C	ENSP00000490815.1:n.4097T>C
ENST00000637748.1:n.504T>C
ENST00000637891.1:c.1597T>C	ENSP00000490907.1:n.1597T>C
ENST00000460843.5:c.3523T>C	ENSP00000417980.1:p.Phe1175Leu
ENST00000462942.3:c.2380T>C	ENSP00000436107.1:p.Phe794Leu
ENST00000475564.5:n.1247T>C
ENST00000494249.5:n.876T>C
NM_024757.4:c.3523T>C	NP_079033.4:p.Phe1175Leu
XM_005266105.3:c.3514T>C	XP_005266162.1:p.Phe1172Leu
XM_005266110.1:c.3430T>C	XP_005266167.1:p.Phe1144Leu
XM_006717288.2:c.3505T>C	XP_006717351.1:p.Phe1169Leu
XM_011519021.1:c.3532T>C	XP_011517323.1:p.Phe1178Leu
XM_011519022.1:c.3529T>C	XP_011517324.1:p.Phe1177Leu
XM_011519023.1:c.3511T>C	XP_011517325.1:p.Phe1171Leu
XM_011519024.1:c.3454T>C	XP_011517326.1:p.Phe1152Leu
XM_011519025.1:c.3430T>C	XP_011517327.1:p.Phe1144Leu
XM_011519026.1:c.3388T>C	XP_011517328.1:p.Phe1130Leu
XM_011519029.1:c.1954T>C	XP_011517331.1:p.Phe652Leu
XM_011519030.1:c.1306T>C	XP_011517332.1:p.Phe436Leu
XM_011519031.1:c.1093T>C	XP_011517333.1:p.Phe365Leu
XM_011519032.1:c.1093T>C	XP_011517334.1:p.Phe365Leu
XM_011519033.1:c.3367T>C	XP_011517335.1:p.Phe1123Leu
XR_930459.1:n.5297-3559A>G
NM_001354263.1:c.3502T>C	NP_001341192.1:p.Phe1168Leu
XM_005266105.5:c.3514T>C	XP_005266162.1:p.Phe1172Leu
XM_011519021.3:c.3532T>C	XP_011517323.1:p.Phe1178Leu
XM_011519022.3:c.3529T>C	XP_011517324.1:p.Phe1177Leu
XM_011519023.3:c.3511T>C	XP_011517325.1:p.Phe1171Leu
XM_011519029.3:c.1954T>C	XP_011517331.1:p.Phe652Leu
XM_011519030.3:c.1306T>C	XP_011517332.1:p.Phe436Leu
XM_017015134.1:c.3508T>C	XP_016870623.1:p.Phe1170Leu
XM_017015136.2:c.3424T>C	XP_016870625.1:p.Phe1142Leu
XM_017015137.1:c.3409T>C	XP_016870626.1:p.Phe1137Leu
XM_017015138.1:c.3409T>C	XP_016870627.1:p.Phe1137Leu
XM_024447674.1:c.3352T>C	XP_024303442.1:p.Phe1118Leu
XM_024447675.1:c.3286T>C	XP_024303443.1:p.Phe1096Leu
XM_024447676.1:c.2647T>C	XP_024303444.1:p.Phe883Leu
XM_024447677.1:c.2647T>C	XP_024303445.1:p.Phe883Leu
XM_024447680.1:c.3265T>C	XP_024303448.1:p.Phe1089Leu
NM_024757.5:c.3523T>C MANE Select	NP_079033.4:p.Phe1175Leu
NM_001354263.2:c.3502T>C	NP_001341192.1:p.Phe1168Leu