Canonical Allele Identifier: CA10586144

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 252987
• ClinVar RCV Id: RCV000239430 ; RCV000478780
• dbSNP Id: rs879255531
• COSMIC: COSM5790329 ; COSM5790330 ; COSM5790331
• MyVariant Identifiers: chr9:g.140622831C>T (hg19) ; chr9:g.137728379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137728379C>T , CM000671.2:g.137728379C>T	GRCh38
NC_000009.11:g.140622831C>T , CM000671.1:g.140622831C>T	GRCh37
NC_000009.10:g.139742652C>T	NCBI36
NG_011776.1:g.114388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.673C>T MANE Select	ENSP00000417980.1:p.Arg225Ter
ENST00000629335.2:c.673C>T	ENSP00000490056.1:p.Arg225Ter
ENST00000636027.1:c.580C>T	ENSP00000489961.1:p.Arg194Ter
ENST00000637161.1:c.580C>T	ENSP00000490328.1:p.Arg194Ter
ENST00000637261.1:c.649C>T	ENSP00000490815.1:p.Arg217Ter
ENST00000637977.1:c.618C>T
ENST00000638071.1:c.378C>T
ENST00000371394.6:c.*408C>T	ENSP00000485945.1:n.*408C>T
ENST00000460486.3:c.784C>T	ENSP00000486969.1:p.Arg262Ter
ENST00000460843.5:c.673C>T	ENSP00000417980.1:p.Arg225Ter
ENST00000462484.5:c.673C>T	ENSP00000417328.1:p.Arg225Ter
ENST00000626066.2:c.597C>T
NM_001145527.1:c.673C>T	NP_001138999.1:p.Arg225Ter
NM_024757.4:c.673C>T	NP_079033.4:p.Arg225Ter
XM_005266105.3:c.664C>T	XP_005266162.1:p.Arg222Ter
XM_005266110.1:c.580C>T	XP_005266167.1:p.Arg194Ter
XM_006717288.2:c.655C>T	XP_006717351.1:p.Arg219Ter
XM_011519021.1:c.682C>T	XP_011517323.1:p.Arg228Ter
XM_011519022.1:c.679C>T	XP_011517324.1:p.Arg227Ter
XM_011519023.1:c.682C>T	XP_011517325.1:p.Arg228Ter
XM_011519024.1:c.682C>T	XP_011517326.1:p.Arg228Ter
XM_011519025.1:c.580C>T	XP_011517327.1:p.Arg194Ter
XM_011519026.1:c.682C>T	XP_011517328.1:p.Arg228Ter
XM_011519027.1:c.682C>T	XP_011517329.1:p.Arg228Ter
XM_011519028.1:c.682C>T	XP_011517330.1:p.Arg228Ter
XM_011519033.1:c.682C>T	XP_011517335.1:p.Arg228Ter
NM_001354259.1:c.580C>T	NP_001341188.1:p.Arg194Ter
NM_001354263.1:c.673C>T	NP_001341192.1:p.Arg225Ter
NM_001354611.1:c.673C>T	NP_001341540.1:p.Arg225Ter
NM_001354612.1:c.580C>T	NP_001341541.1:p.Arg194Ter
XM_005266105.5:c.664C>T	XP_005266162.1:p.Arg222Ter
XM_011519021.3:c.682C>T	XP_011517323.1:p.Arg228Ter
XM_011519022.3:c.679C>T	XP_011517324.1:p.Arg227Ter
XM_011519023.3:c.682C>T	XP_011517325.1:p.Arg228Ter
XM_017015134.1:c.679C>T	XP_016870623.1:p.Arg227Ter
XM_017015136.2:c.673C>T	XP_016870625.1:p.Arg225Ter
XM_017015137.1:c.580C>T	XP_016870626.1:p.Arg194Ter
XM_017015138.1:c.580C>T	XP_016870627.1:p.Arg194Ter
XM_024447674.1:c.580C>T	XP_024303442.1:p.Arg194Ter
XM_024447675.1:c.580C>T	XP_024303443.1:p.Arg194Ter
XM_024447678.1:c.580C>T	XP_024303446.1:p.Arg194Ter
XM_024447679.1:c.580C>T	XP_024303447.1:p.Arg194Ter
XM_024447680.1:c.580C>T	XP_024303448.1:p.Arg194Ter
NM_024757.5:c.673C>T MANE Select	NP_079033.4:p.Arg225Ter
NM_001145527.2:c.673C>T	NP_001138999.1:p.Arg225Ter
NM_001354259.2:c.580C>T	NP_001341188.1:p.Arg194Ter
NM_001354263.2:c.673C>T	NP_001341192.1:p.Arg225Ter
NM_001354611.2:c.673C>T	NP_001341540.1:p.Arg225Ter
NM_001354612.2:c.580C>T	NP_001341541.1:p.Arg194Ter