Canonical Allele Identifier: CA243491

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 196517
• ClinVar RCV Id: RCV000177337 ; RCV002516737
• dbSNP Id: rs759512176
• gnomAD v4: 9-137716631-C-T
• MyVariant Identifiers: chr9:g.140611083C>T (hg19) ; chr9:g.137716631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137716631C>T , CM000671.2:g.137716631C>T	GRCh38
NC_000009.11:g.140611083C>T , CM000671.1:g.140611083C>T	GRCh37
NC_000009.10:g.139730904C>T	NCBI36
NG_011776.1:g.102640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.91C>T MANE Select	ENSP00000417980.1:p.Pro31Ser
ENST00000629335.2:c.91C>T	ENSP00000490056.1:p.Pro31Ser
ENST00000636027.1:c.-3C>T	ENSP00000489961.1:n.-3C>T
ENST00000637161.1:c.-3C>T	ENSP00000490328.1:n.-3C>T
ENST00000637261.1:c.67C>T	ENSP00000490815.1:p.Pro23Ser
ENST00000637977.1:c.36C>T
ENST00000371394.6:c.27C>T	ENSP00000485945.1:p.His9=
ENST00000460486.3:c.202C>T	ENSP00000486969.1:p.Pro68Ser
ENST00000460843.5:c.91C>T	ENSP00000417980.1:p.Pro31Ser
ENST00000462484.5:c.91C>T	ENSP00000417328.1:p.Pro31Ser
ENST00000492232.5:c.-3C>T	ENSP00000486580.1:n.-3C>T
ENST00000626066.2:c.15C>T
ENST00000626216.2:c.-3C>T	ENSP00000485878.1:n.-3C>T
ENST00000629417.1:c.-3C>T	ENSP00000486857.1:n.-3C>T
ENST00000630754.2:c.-3C>T	ENSP00000485933.1:n.-3C>T
NM_001145527.1:c.91C>T	NP_001138999.1:p.Pro31Ser
NM_024757.4:c.91C>T	NP_079033.4:p.Pro31Ser
XM_005266105.3:c.82C>T	XP_005266162.1:p.Pro28Ser
XM_005266110.1:c.-3C>T	XP_005266167.1:n.-3C>T
XM_006717288.2:c.73C>T	XP_006717351.1:p.Pro25Ser
XM_011519021.1:c.100C>T	XP_011517323.1:p.Pro34Ser
XM_011519022.1:c.97C>T	XP_011517324.1:p.Pro33Ser
XM_011519023.1:c.100C>T	XP_011517325.1:p.Pro34Ser
XM_011519024.1:c.100C>T	XP_011517326.1:p.Pro34Ser
XM_011519025.1:c.-3C>T	XP_011517327.1:n.-3C>T
XM_011519026.1:c.100C>T	XP_011517328.1:p.Pro34Ser
XM_011519027.1:c.100C>T	XP_011517329.1:p.Pro34Ser
XM_011519028.1:c.100C>T	XP_011517330.1:p.Pro34Ser
XM_011519033.1:c.100C>T	XP_011517335.1:p.Pro34Ser
NM_001354259.1:c.-3C>T	NP_001341188.1:n.-3C>T
NM_001354263.1:c.91C>T	NP_001341192.1:p.Pro31Ser
NM_001354611.1:c.91C>T	NP_001341540.1:p.Pro31Ser
NM_001354612.1:c.-3C>T	NP_001341541.1:n.-3C>T
XM_005266105.5:c.82C>T	XP_005266162.1:p.Pro28Ser
XM_011519021.3:c.100C>T	XP_011517323.1:p.Pro34Ser
XM_011519022.3:c.97C>T	XP_011517324.1:p.Pro33Ser
XM_011519023.3:c.100C>T	XP_011517325.1:p.Pro34Ser
XM_017015134.1:c.97C>T	XP_016870623.1:p.Pro33Ser
XM_017015136.2:c.91C>T	XP_016870625.1:p.Pro31Ser
XM_017015137.1:c.-3C>T	XP_016870626.1:n.-3C>T
XM_017015138.1:c.-3C>T	XP_016870627.1:n.-3C>T
XM_024447674.1:c.-3C>T	XP_024303442.1:n.-3C>T
XM_024447675.1:c.-3C>T	XP_024303443.1:n.-3C>T
XM_024447678.1:c.-3C>T	XP_024303446.1:n.-3C>T
XM_024447679.1:c.-3C>T	XP_024303447.1:n.-3C>T
XM_024447680.1:c.-3C>T	XP_024303448.1:n.-3C>T
NM_024757.5:c.91C>T MANE Select	NP_079033.4:p.Pro31Ser
NM_001145527.2:c.91C>T	NP_001138999.1:p.Pro31Ser
NM_001354259.2:c.-3C>T	NP_001341188.1:n.-3C>T
NM_001354263.2:c.91C>T	NP_001341192.1:p.Pro31Ser
NM_001354611.2:c.91C>T	NP_001341540.1:p.Pro31Ser
NM_001354612.2:c.-3C>T	NP_001341541.1:n.-3C>T