Canonical Allele Identifier: CA645369463

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 429991
• ClinVar RCV Id: RCV000494463
• dbSNP Id: rs1131691715
• MyVariant Identifiers: chr9:g.140611409dup (hg19) ; chr9:g.137716957dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137716957dup , CM000671.2:g.137716957dup	GRCh38
NC_000009.11:g.140611409dup , CM000671.1:g.140611409dup	GRCh37
NC_000009.10:g.139731230dup	NCBI36
NG_011776.1:g.102966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.417dup MANE Select	ENSP00000417980.1:p.Thr140TyrfsTer?
ENST00000629335.2:c.417dup	ENSP00000490056.1:p.Thr140TyrfsTer?
ENST00000636027.1:c.324dup	ENSP00000489961.1:p.Thr109TyrfsTer?
ENST00000637161.1:c.324dup	ENSP00000490328.1:p.Thr109TyrfsTer?
ENST00000637261.1:c.393dup	ENSP00000490815.1:p.Thr132TyrfsTer?
ENST00000637977.1:c.362dup
ENST00000638071.1:c.31dup
ENST00000371394.6:c.*152dup	ENSP00000485945.1:n.*152dup
ENST00000460486.3:c.528dup	ENSP00000486969.1:p.Thr177TyrfsTer?
ENST00000460843.5:c.417dup	ENSP00000417980.1:p.Thr140TyrfsTer?
ENST00000462484.5:c.417dup	ENSP00000417328.1:p.Thr140TyrfsTer?
ENST00000492232.5:c.324dup	ENSP00000486580.1:p.Thr109TyrfsTer?
ENST00000626066.2:c.341dup
ENST00000629417.1:c.324dup	ENSP00000486857.1:p.Thr109TyrfsTer?
ENST00000630754.2:c.324dup	ENSP00000485933.1:p.Thr109TyrfsTer?
NM_001145527.1:c.417dup	NP_001138999.1:p.Thr140TyrfsTer?
NM_024757.4:c.417dup	NP_079033.4:p.Thr140TyrfsTer?
XM_005266105.3:c.408dup	XP_005266162.1:p.Thr137TyrfsTer?
XM_005266110.1:c.324dup	XP_005266167.1:p.Thr109TyrfsTer?
XM_006717288.2:c.399dup	XP_006717351.1:p.Thr134TyrfsTer?
XM_011519021.1:c.426dup	XP_011517323.1:p.Thr143TyrfsTer?
XM_011519022.1:c.423dup	XP_011517324.1:p.Thr142TyrfsTer?
XM_011519023.1:c.426dup	XP_011517325.1:p.Thr143TyrfsTer?
XM_011519024.1:c.426dup	XP_011517326.1:p.Thr143TyrfsTer?
XM_011519025.1:c.324dup	XP_011517327.1:p.Thr109TyrfsTer?
XM_011519026.1:c.426dup	XP_011517328.1:p.Thr143TyrfsTer?
XM_011519027.1:c.426dup	XP_011517329.1:p.Thr143TyrfsTer?
XM_011519028.1:c.426dup	XP_011517330.1:p.Thr143TyrfsTer?
XM_011519033.1:c.426dup	XP_011517335.1:p.Thr143TyrfsTer?
NM_001354259.1:c.324dup	NP_001341188.1:p.Thr109TyrfsTer?
NM_001354263.1:c.417dup	NP_001341192.1:p.Thr140TyrfsTer?
NM_001354611.1:c.417dup	NP_001341540.1:p.Thr140TyrfsTer?
NM_001354612.1:c.324dup	NP_001341541.1:p.Thr109TyrfsTer?
XM_005266105.5:c.408dup	XP_005266162.1:p.Thr137TyrfsTer?
XM_011519021.3:c.426dup	XP_011517323.1:p.Thr143TyrfsTer?
XM_011519022.3:c.423dup	XP_011517324.1:p.Thr142TyrfsTer?
XM_011519023.3:c.426dup	XP_011517325.1:p.Thr143TyrfsTer?
XM_017015134.1:c.423dup	XP_016870623.1:p.Thr142TyrfsTer?
XM_017015136.2:c.417dup	XP_016870625.1:p.Thr140TyrfsTer?
XM_017015137.1:c.324dup	XP_016870626.1:p.Thr109TyrfsTer?
XM_017015138.1:c.324dup	XP_016870627.1:p.Thr109TyrfsTer?
XM_024447674.1:c.324dup	XP_024303442.1:p.Thr109TyrfsTer?
XM_024447675.1:c.324dup	XP_024303443.1:p.Thr109TyrfsTer?
XM_024447678.1:c.324dup	XP_024303446.1:p.Thr109TyrfsTer?
XM_024447679.1:c.324dup	XP_024303447.1:p.Thr109TyrfsTer?
XM_024447680.1:c.324dup	XP_024303448.1:p.Thr109TyrfsTer?
NM_024757.5:c.417dup MANE Select	NP_079033.4:p.Thr140TyrfsTer?
NM_001145527.2:c.417dup	NP_001138999.1:p.Thr140TyrfsTer?
NM_001354259.2:c.324dup	NP_001341188.1:p.Thr109TyrfsTer?
NM_001354263.2:c.417dup	NP_001341192.1:p.Thr140TyrfsTer?
NM_001354611.2:c.417dup	NP_001341540.1:p.Thr140TyrfsTer?
NM_001354612.2:c.324dup	NP_001341541.1:p.Thr109TyrfsTer?