Canonical Allele Identifier: CA375793373

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813061-C-T
• MyVariant Identifiers: chr9:g.140707513C>T (hg19) ; chr9:g.137813061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813061C>T , CM000671.2:g.137813061C>T	GRCh38
NC_000009.11:g.140707513C>T , CM000671.1:g.140707513C>T	GRCh37
NC_000009.10:g.139827334C>T	NCBI36
NG_011776.1:g.199070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2923C>T MANE Select	ENSP00000417980.1:p.Pro975Ser
ENST00000636027.1:c.2809C>T	ENSP00000489961.1:p.Pro937Ser
ENST00000637161.1:c.2830C>T	ENSP00000490328.1:p.Pro944Ser
ENST00000637261.1:c.2963C>T	ENSP00000490815.1:n.2963C>T
ENST00000637891.1:c.817C>T	ENSP00000490907.1:p.Pro273Ser
ENST00000460843.5:c.2923C>T	ENSP00000417980.1:p.Pro975Ser
ENST00000462942.3:c.1780C>T	ENSP00000436107.1:p.Pro594Ser
ENST00000486164.5:c.610C>T
ENST00000488242.2:n.449C>T
NM_024757.4:c.2923C>T	NP_079033.4:p.Pro975Ser
XM_005266105.3:c.2914C>T	XP_005266162.1:p.Pro972Ser
XM_005266110.1:c.2830C>T	XP_005266167.1:p.Pro944Ser
XM_006717288.2:c.2905C>T	XP_006717351.1:p.Pro969Ser
XM_011519021.1:c.2932C>T	XP_011517323.1:p.Pro978Ser
XM_011519022.1:c.2929C>T	XP_011517324.1:p.Pro977Ser
XM_011519023.1:c.2911C>T	XP_011517325.1:p.Pro971Ser
XM_011519024.1:c.2854C>T	XP_011517326.1:p.Pro952Ser
XM_011519025.1:c.2830C>T	XP_011517327.1:p.Pro944Ser
XM_011519026.1:c.2788C>T	XP_011517328.1:p.Pro930Ser
XM_011519029.1:c.1354C>T	XP_011517331.1:p.Pro452Ser
XM_011519030.1:c.706C>T	XP_011517332.1:p.Pro236Ser
XM_011519031.1:c.493C>T	XP_011517333.1:p.Pro165Ser
XM_011519032.1:c.493C>T	XP_011517334.1:p.Pro165Ser
XM_011519033.1:c.2767C>T	XP_011517335.1:p.Pro923Ser
NM_001354263.1:c.2902C>T	NP_001341192.1:p.Pro968Ser
XM_005266105.5:c.2914C>T	XP_005266162.1:p.Pro972Ser
XM_011519021.3:c.2932C>T	XP_011517323.1:p.Pro978Ser
XM_011519022.3:c.2929C>T	XP_011517324.1:p.Pro977Ser
XM_011519023.3:c.2911C>T	XP_011517325.1:p.Pro971Ser
XM_011519029.3:c.1354C>T	XP_011517331.1:p.Pro452Ser
XM_011519030.3:c.706C>T	XP_011517332.1:p.Pro236Ser
XM_017015134.1:c.2908C>T	XP_016870623.1:p.Pro970Ser
XM_017015136.2:c.2824C>T	XP_016870625.1:p.Pro942Ser
XM_017015137.1:c.2809C>T	XP_016870626.1:p.Pro937Ser
XM_017015138.1:c.2809C>T	XP_016870627.1:p.Pro937Ser
XM_024447674.1:c.2752C>T	XP_024303442.1:p.Pro918Ser
XM_024447675.1:c.2686C>T	XP_024303443.1:p.Pro896Ser
XM_024447676.1:c.2047C>T	XP_024303444.1:p.Pro683Ser
XM_024447677.1:c.2047C>T	XP_024303445.1:p.Pro683Ser
XM_024447680.1:c.2665C>T	XP_024303448.1:p.Pro889Ser
NM_024757.5:c.2923C>T MANE Select	NP_079033.4:p.Pro975Ser
NM_001354263.2:c.2902C>T	NP_001341192.1:p.Pro968Ser