Canonical Allele Identifier: CA375776792

Gene: EHMT1

Linked Data

• dbSNP Id: rs1950994381
• gnomAD v4: 9-137776789-C-T
• MyVariant Identifiers: chr9:g.140671241C>T (hg19) ; chr9:g.137776789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776789C>T , CM000671.2:g.137776789C>T	GRCh38
NC_000009.11:g.140671241C>T , CM000671.1:g.140671241C>T	GRCh37
NC_000009.10:g.139791062C>T	NCBI36
NG_011776.1:g.162798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1963C>T MANE Select	ENSP00000417980.1:p.Pro655Ser
ENST00000636027.1:c.1849C>T	ENSP00000489961.1:p.Pro617Ser
ENST00000637161.1:c.1870C>T	ENSP00000490328.1:p.Pro624Ser
ENST00000637261.1:c.2003C>T	ENSP00000490815.1:n.2003C>T
ENST00000638071.1:c.1590C>T
ENST00000640639.1:c.1132C>T	ENSP00000491823.1:p.Pro378Ser
ENST00000371394.6:c.*1698C>T	ENSP00000485945.1:n.*1698C>T
ENST00000460843.5:c.1963C>T	ENSP00000417980.1:p.Pro655Ser
ENST00000462484.5:c.1963C>T	ENSP00000417328.1:p.Pro655Ser
ENST00000462942.3:c.820C>T	ENSP00000436107.1:p.Pro274Ser
ENST00000626603.1:n.1660G>A
NM_001145527.1:c.1963C>T	NP_001138999.1:p.Pro655Ser
NM_024757.4:c.1963C>T	NP_079033.4:p.Pro655Ser
XM_005266105.3:c.1954C>T	XP_005266162.1:p.Pro652Ser
XM_005266110.1:c.1870C>T	XP_005266167.1:p.Pro624Ser
XM_006717288.2:c.1945C>T	XP_006717351.1:p.Pro649Ser
XM_011519021.1:c.1972C>T	XP_011517323.1:p.Pro658Ser
XM_011519022.1:c.1969C>T	XP_011517324.1:p.Pro657Ser
XM_011519023.1:c.1951C>T	XP_011517325.1:p.Pro651Ser
XM_011519024.1:c.1894C>T	XP_011517326.1:p.Pro632Ser
XM_011519025.1:c.1870C>T	XP_011517327.1:p.Pro624Ser
XM_011519026.1:c.1828C>T	XP_011517328.1:p.Pro610Ser
XM_011519027.1:c.1972C>T	XP_011517329.1:p.Pro658Ser
XM_011519028.1:c.1972C>T	XP_011517330.1:p.Pro658Ser
XM_011519029.1:c.394C>T	XP_011517331.1:p.Pro132Ser
XM_011519033.1:c.1807C>T	XP_011517335.1:p.Pro603Ser
NM_001354259.1:c.1870C>T	NP_001341188.1:p.Pro624Ser
NM_001354263.1:c.1942C>T	NP_001341192.1:p.Pro648Ser
XM_005266105.5:c.1954C>T	XP_005266162.1:p.Pro652Ser
XM_011519021.3:c.1972C>T	XP_011517323.1:p.Pro658Ser
XM_011519022.3:c.1969C>T	XP_011517324.1:p.Pro657Ser
XM_011519023.3:c.1951C>T	XP_011517325.1:p.Pro651Ser
XM_011519029.3:c.394C>T	XP_011517331.1:p.Pro132Ser
XM_017015134.1:c.1948C>T	XP_016870623.1:p.Pro650Ser
XM_017015136.2:c.1864C>T	XP_016870625.1:p.Pro622Ser
XM_017015137.1:c.1849C>T	XP_016870626.1:p.Pro617Ser
XM_017015138.1:c.1849C>T	XP_016870627.1:p.Pro617Ser
XM_024447674.1:c.1792C>T	XP_024303442.1:p.Pro598Ser
XM_024447675.1:c.1726C>T	XP_024303443.1:p.Pro576Ser
XM_024447676.1:c.1087C>T	XP_024303444.1:p.Pro363Ser
XM_024447677.1:c.1087C>T	XP_024303445.1:p.Pro363Ser
XM_024447678.1:c.1870C>T	XP_024303446.1:p.Pro624Ser
XM_024447679.1:c.1870C>T	XP_024303447.1:p.Pro624Ser
XM_024447680.1:c.1705C>T	XP_024303448.1:p.Pro569Ser
NM_024757.5:c.1963C>T MANE Select	NP_079033.4:p.Pro655Ser
NM_001145527.2:c.1963C>T	NP_001138999.1:p.Pro655Ser
NM_001354259.2:c.1870C>T	NP_001341188.1:p.Pro624Ser
NM_001354263.2:c.1942C>T	NP_001341192.1:p.Pro648Ser