Canonical Allele Identifier: CA375794469

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707948C>T (hg19) ; chr9:g.137813496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813496C>T , CM000671.2:g.137813496C>T	GRCh38
NC_000009.11:g.140707948C>T , CM000671.1:g.140707948C>T	GRCh37
NC_000009.10:g.139827769C>T	NCBI36
NG_011776.1:g.199505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3146C>T MANE Select	ENSP00000417980.1:p.Pro1049Leu
ENST00000637161.1:c.3053C>T	ENSP00000490328.1:p.Pro1018Leu
ENST00000637261.1:c.3186C>T	ENSP00000490815.1:n.3186C>T
ENST00000637891.1:c.1040C>T	ENSP00000490907.1:p.Pro347Leu
ENST00000460843.5:c.3146C>T	ENSP00000417980.1:p.Pro1049Leu
ENST00000462942.3:c.2003C>T	ENSP00000436107.1:p.Pro668Leu
ENST00000483653.1:n.6C>T
ENST00000488242.2:n.672C>T
NM_024757.4:c.3146C>T	NP_079033.4:p.Pro1049Leu
XM_005266105.3:c.3137C>T	XP_005266162.1:p.Pro1046Leu
XM_005266110.1:c.3053C>T	XP_005266167.1:p.Pro1018Leu
XM_006717288.2:c.3128C>T	XP_006717351.1:p.Pro1043Leu
XM_011519021.1:c.3155C>T	XP_011517323.1:p.Pro1052Leu
XM_011519022.1:c.3152C>T	XP_011517324.1:p.Pro1051Leu
XM_011519023.1:c.3134C>T	XP_011517325.1:p.Pro1045Leu
XM_011519024.1:c.3077C>T	XP_011517326.1:p.Pro1026Leu
XM_011519025.1:c.3053C>T	XP_011517327.1:p.Pro1018Leu
XM_011519026.1:c.3011C>T	XP_011517328.1:p.Pro1004Leu
XM_011519029.1:c.1577C>T	XP_011517331.1:p.Pro526Leu
XM_011519030.1:c.929C>T	XP_011517332.1:p.Pro310Leu
XM_011519031.1:c.716C>T	XP_011517333.1:p.Pro239Leu
XM_011519032.1:c.716C>T	XP_011517334.1:p.Pro239Leu
XM_011519033.1:c.2990C>T	XP_011517335.1:p.Pro997Leu
NM_001354263.1:c.3125C>T	NP_001341192.1:p.Pro1042Leu
XM_005266105.5:c.3137C>T	XP_005266162.1:p.Pro1046Leu
XM_011519021.3:c.3155C>T	XP_011517323.1:p.Pro1052Leu
XM_011519022.3:c.3152C>T	XP_011517324.1:p.Pro1051Leu
XM_011519023.3:c.3134C>T	XP_011517325.1:p.Pro1045Leu
XM_011519029.3:c.1577C>T	XP_011517331.1:p.Pro526Leu
XM_011519030.3:c.929C>T	XP_011517332.1:p.Pro310Leu
XM_017015134.1:c.3131C>T	XP_016870623.1:p.Pro1044Leu
XM_017015136.2:c.3047C>T	XP_016870625.1:p.Pro1016Leu
XM_017015137.1:c.3032C>T	XP_016870626.1:p.Pro1011Leu
XM_017015138.1:c.3032C>T	XP_016870627.1:p.Pro1011Leu
XM_024447674.1:c.2975C>T	XP_024303442.1:p.Pro992Leu
XM_024447675.1:c.2909C>T	XP_024303443.1:p.Pro970Leu
XM_024447676.1:c.2270C>T	XP_024303444.1:p.Pro757Leu
XM_024447677.1:c.2270C>T	XP_024303445.1:p.Pro757Leu
XM_024447680.1:c.2888C>T	XP_024303448.1:p.Pro963Leu
NM_024757.5:c.3146C>T MANE Select	NP_079033.4:p.Pro1049Leu
NM_001354263.2:c.3125C>T	NP_001341192.1:p.Pro1042Leu