Canonical Allele Identifier: CA375794460

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 2824774
• ClinVar RCV Id: RCV003610360
• MyVariant Identifiers: chr9:g.140707947C>T (hg19) ; chr9:g.137813495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813495C>T , CM000671.2:g.137813495C>T	GRCh38
NC_000009.11:g.140707947C>T , CM000671.1:g.140707947C>T	GRCh37
NC_000009.10:g.139827768C>T	NCBI36
NG_011776.1:g.199504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3145C>T MANE Select	ENSP00000417980.1:p.Pro1049Ser
ENST00000637161.1:c.3052C>T	ENSP00000490328.1:p.Pro1018Ser
ENST00000637261.1:c.3185C>T	ENSP00000490815.1:n.3185C>T
ENST00000637891.1:c.1039C>T	ENSP00000490907.1:p.Pro347Ser
ENST00000460843.5:c.3145C>T	ENSP00000417980.1:p.Pro1049Ser
ENST00000462942.3:c.2002C>T	ENSP00000436107.1:p.Pro668Ser
ENST00000483653.1:n.5C>T
ENST00000488242.2:n.671C>T
NM_024757.4:c.3145C>T	NP_079033.4:p.Pro1049Ser
XM_005266105.3:c.3136C>T	XP_005266162.1:p.Pro1046Ser
XM_005266110.1:c.3052C>T	XP_005266167.1:p.Pro1018Ser
XM_006717288.2:c.3127C>T	XP_006717351.1:p.Pro1043Ser
XM_011519021.1:c.3154C>T	XP_011517323.1:p.Pro1052Ser
XM_011519022.1:c.3151C>T	XP_011517324.1:p.Pro1051Ser
XM_011519023.1:c.3133C>T	XP_011517325.1:p.Pro1045Ser
XM_011519024.1:c.3076C>T	XP_011517326.1:p.Pro1026Ser
XM_011519025.1:c.3052C>T	XP_011517327.1:p.Pro1018Ser
XM_011519026.1:c.3010C>T	XP_011517328.1:p.Pro1004Ser
XM_011519029.1:c.1576C>T	XP_011517331.1:p.Pro526Ser
XM_011519030.1:c.928C>T	XP_011517332.1:p.Pro310Ser
XM_011519031.1:c.715C>T	XP_011517333.1:p.Pro239Ser
XM_011519032.1:c.715C>T	XP_011517334.1:p.Pro239Ser
XM_011519033.1:c.2989C>T	XP_011517335.1:p.Pro997Ser
NM_001354263.1:c.3124C>T	NP_001341192.1:p.Pro1042Ser
XM_005266105.5:c.3136C>T	XP_005266162.1:p.Pro1046Ser
XM_011519021.3:c.3154C>T	XP_011517323.1:p.Pro1052Ser
XM_011519022.3:c.3151C>T	XP_011517324.1:p.Pro1051Ser
XM_011519023.3:c.3133C>T	XP_011517325.1:p.Pro1045Ser
XM_011519029.3:c.1576C>T	XP_011517331.1:p.Pro526Ser
XM_011519030.3:c.928C>T	XP_011517332.1:p.Pro310Ser
XM_017015134.1:c.3130C>T	XP_016870623.1:p.Pro1044Ser
XM_017015136.2:c.3046C>T	XP_016870625.1:p.Pro1016Ser
XM_017015137.1:c.3031C>T	XP_016870626.1:p.Pro1011Ser
XM_017015138.1:c.3031C>T	XP_016870627.1:p.Pro1011Ser
XM_024447674.1:c.2974C>T	XP_024303442.1:p.Pro992Ser
XM_024447675.1:c.2908C>T	XP_024303443.1:p.Pro970Ser
XM_024447676.1:c.2269C>T	XP_024303444.1:p.Pro757Ser
XM_024447677.1:c.2269C>T	XP_024303445.1:p.Pro757Ser
XM_024447680.1:c.2887C>T	XP_024303448.1:p.Pro963Ser
NM_024757.5:c.3145C>T MANE Select	NP_079033.4:p.Pro1049Ser
NM_001354263.2:c.3124C>T	NP_001341192.1:p.Pro1042Ser