Canonical Allele Identifier: CA375768918

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657174G>T (hg19) ; chr9:g.137762722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762722G>T , CM000671.2:g.137762722G>T	GRCh38
NC_000009.11:g.140657174G>T , CM000671.1:g.140657174G>T	GRCh37
NC_000009.10:g.139776995G>T	NCBI36
NG_011776.1:g.148731G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1549G>T MANE Select	ENSP00000417980.1:p.Val517Leu
ENST00000629335.2:c.1549G>T	ENSP00000490056.1:p.Val517Leu
ENST00000636027.1:c.1435G>T	ENSP00000489961.1:p.Val479Leu
ENST00000637161.1:c.1456G>T	ENSP00000490328.1:p.Val486Leu
ENST00000637261.1:c.1589G>T	ENSP00000490815.1:n.1589G>T
ENST00000637977.1:c.1494G>T
ENST00000638071.1:c.1176G>T
ENST00000640639.1:c.718G>T	ENSP00000491823.1:p.Val240Leu
ENST00000371394.6:c.*1284G>T	ENSP00000485945.1:n.*1284G>T
ENST00000460843.5:c.1549G>T	ENSP00000417980.1:p.Val517Leu
ENST00000462484.5:c.1549G>T	ENSP00000417328.1:p.Val517Leu
ENST00000462942.3:c.406G>T	ENSP00000436107.1:p.Val136Leu
ENST00000465566.2:c.241G>T	ENSP00000486261.1:p.Val81Leu
ENST00000629808.2:c.642G>T
NM_001145527.1:c.1549G>T	NP_001138999.1:p.Val517Leu
NM_024757.4:c.1549G>T	NP_079033.4:p.Val517Leu
XM_005266105.3:c.1540G>T	XP_005266162.1:p.Val514Leu
XM_005266110.1:c.1456G>T	XP_005266167.1:p.Val486Leu
XM_006717288.2:c.1531G>T	XP_006717351.1:p.Val511Leu
XM_011519021.1:c.1558G>T	XP_011517323.1:p.Val520Leu
XM_011519022.1:c.1555G>T	XP_011517324.1:p.Val519Leu
XM_011519023.1:c.1537G>T	XP_011517325.1:p.Val513Leu
XM_011519024.1:c.1480G>T	XP_011517326.1:p.Val494Leu
XM_011519025.1:c.1456G>T	XP_011517327.1:p.Val486Leu
XM_011519026.1:c.1558G>T	XP_011517328.1:p.Val520Leu
XM_011519027.1:c.1558G>T	XP_011517329.1:p.Val520Leu
XM_011519028.1:c.1558G>T	XP_011517330.1:p.Val520Leu
XM_011519029.1:c.-21G>T	XP_011517331.1:n.-21G>T
XM_011519033.1:c.1537G>T	XP_011517335.1:p.Val513Leu
NM_001354259.1:c.1456G>T	NP_001341188.1:p.Val486Leu
NM_001354263.1:c.1528G>T	NP_001341192.1:p.Val510Leu
NM_001354611.1:c.1549G>T	NP_001341540.1:p.Val517Leu
NM_001354612.1:c.1456G>T	NP_001341541.1:p.Val486Leu
XM_005266105.5:c.1540G>T	XP_005266162.1:p.Val514Leu
XM_011519021.3:c.1558G>T	XP_011517323.1:p.Val520Leu
XM_011519022.3:c.1555G>T	XP_011517324.1:p.Val519Leu
XM_011519023.3:c.1537G>T	XP_011517325.1:p.Val513Leu
XM_011519029.3:c.-21G>T	XP_011517331.1:n.-21G>T
XM_017015134.1:c.1534G>T	XP_016870623.1:p.Val512Leu
XM_017015136.2:c.1450G>T	XP_016870625.1:p.Val484Leu
XM_017015137.1:c.1435G>T	XP_016870626.1:p.Val479Leu
XM_017015138.1:c.1435G>T	XP_016870627.1:p.Val479Leu
XM_024447674.1:c.1378G>T	XP_024303442.1:p.Val460Leu
XM_024447675.1:c.1456G>T	XP_024303443.1:p.Val486Leu
XM_024447676.1:c.673G>T	XP_024303444.1:p.Val225Leu
XM_024447677.1:c.673G>T	XP_024303445.1:p.Val225Leu
XM_024447678.1:c.1456G>T	XP_024303446.1:p.Val486Leu
XM_024447679.1:c.1456G>T	XP_024303447.1:p.Val486Leu
XM_024447680.1:c.1435G>T	XP_024303448.1:p.Val479Leu
NM_024757.5:c.1549G>T MANE Select	NP_079033.4:p.Val517Leu
NM_001145527.2:c.1549G>T	NP_001138999.1:p.Val517Leu
NM_001354259.2:c.1456G>T	NP_001341188.1:p.Val486Leu
NM_001354263.2:c.1528G>T	NP_001341192.1:p.Val510Leu
NM_001354611.2:c.1549G>T	NP_001341540.1:p.Val517Leu
NM_001354612.2:c.1456G>T	NP_001341541.1:p.Val486Leu