Canonical Allele Identifier: CA341152303

Gene: EVI5

Linked Data

• dbSNP Id: rs1650752440
• gnomAD v3: 1-92607705-A-C
• gnomAD v4: 1-92607705-A-C
• MyVariant Identifiers: chr1:g.93073262A>C (hg19) ; chr1:g.92607705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607705A>C , CM000663.2:g.92607705A>C	GRCh38
NC_000001.10:g.93073262A>C , CM000663.1:g.93073262A>C	GRCh37
NC_000001.9:g.92845850A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1835T>G	ENSP00000440826.2:p.Leu612Arg
ENST00000706843.1:c.1826T>G	ENSP00000516584.1:p.Leu609Arg
ENST00000706845.1:c.*1683T>G	ENSP00000516587.1:n.*1683T>G
ENST00000706846.1:c.1850T>G	ENSP00000516588.1:p.Leu617Arg
ENST00000706867.1:c.1931T>G	ENSP00000516594.1:p.Leu644Arg
ENST00000706868.1:c.1850T>G	ENSP00000516595.1:p.Leu617Arg
ENST00000706869.1:n.310-3906T>G
ENST00000706883.1:c.638T>G	ENSP00000516600.1:p.Leu213Arg
ENST00000706885.1:c.1715T>G	ENSP00000516601.1:p.Leu572Arg
ENST00000684568.2:c.1850T>G MANE Select	ENSP00000506999.1:p.Leu617Arg
ENST00000370331.5:c.1802T>G	ENSP00000359356.1:p.Leu601Arg
ENST00000468580.5:n.565T>G
ENST00000491940.5:n.655T>G
ENST00000492513.5:n.323T>G
ENST00000540033.2:c.1835T>G	ENSP00000440826.2:p.Leu612Arg
NM_001308248.1:c.1835T>G	NP_001295177.1:p.Leu612Arg
NM_005665.4:c.1802T>G	NP_005656.4:p.Leu601Arg
NM_005665.5:c.1802T>G	NP_005656.4:p.Leu601Arg
XM_011542099.1:c.2054T>G	XP_011540401.1:p.Leu685Arg
XM_011542100.1:c.2054T>G	XP_011540402.1:p.Leu685Arg
XM_011542101.1:c.1931T>G	XP_011540403.1:p.Leu644Arg
XM_011542102.1:c.1907T>G	XP_011540404.1:p.Leu636Arg
XM_011542103.1:c.2032-2303T>G	XP_011540405.1:n.2032-2303T>G
XM_011542104.1:c.1895T>G	XP_011540406.1:p.Leu632Arg
XM_011542105.1:c.1874T>G	XP_011540407.1:p.Leu625Arg
XM_011542107.1:c.1802T>G	XP_011540409.1:p.Leu601Arg
XM_011542108.1:c.2054T>G	XP_011540410.1:p.Leu685Arg
XM_011542109.1:c.2054T>G	XP_011540411.1:p.Leu685Arg
NM_001350197.1:c.1850T>G	NP_001337126.1:p.Leu617Arg
NM_001350198.1:c.1850T>G	NP_001337127.1:p.Leu617Arg
XM_017002269.1:c.2063T>G	XP_016857758.1:p.Leu688Arg
XM_017002270.2:c.2054T>G	XP_016857759.1:p.Leu685Arg
XM_017002271.2:c.1982T>G	XP_016857760.1:p.Leu661Arg
XM_017002272.1:c.2063T>G	XP_016857761.1:p.Leu688Arg
XM_017002273.2:c.1931T>G	XP_016857762.1:p.Leu644Arg
XM_017002274.1:c.1931T>G	XP_016857763.1:p.Leu644Arg
XM_017002275.1:c.1931T>G	XP_016857764.1:p.Leu644Arg
XM_017002276.2:c.1850T>G	XP_016857765.1:p.Leu617Arg
XM_017002277.1:c.1835T>G	XP_016857766.1:p.Leu612Arg
XM_017002278.1:c.1916T>G	XP_016857767.1:p.Leu639Arg
XM_017002279.1:c.1796T>G	XP_016857768.1:p.Leu599Arg
XM_017002281.2:c.1826T>G	XP_016857770.1:p.Leu609Arg
XM_017002282.1:c.2063T>G	XP_016857771.1:p.Leu688Arg
XM_017002283.1:c.1982T>G	XP_016857772.1:p.Leu661Arg
XM_017002284.2:c.1703T>G	XP_016857773.1:p.Leu568Arg
XM_017002286.2:c.1439T>G	XP_016857775.1:p.Leu480Arg
XM_017002287.2:c.1439T>G	XP_016857776.1:p.Leu480Arg
XM_017002288.1:c.1439T>G	XP_016857777.1:p.Leu480Arg
XM_024449686.1:c.1982T>G	XP_024305454.1:p.Leu661Arg
XM_024449689.1:c.1883T>G	XP_024305457.1:p.Leu628Arg
XM_024449690.1:c.1715T>G	XP_024305458.1:p.Leu572Arg
NM_001308248.2:c.1835T>G	NP_001295177.1:p.Leu612Arg
NM_001350197.2:c.1850T>G MANE Select	NP_001337126.1:p.Leu617Arg
NM_001350198.2:c.1850T>G	NP_001337127.1:p.Leu617Arg
NM_001377210.1:c.1826T>G	NP_001364139.1:p.Leu609Arg
NM_001377211.1:c.1808T>G	NP_001364140.1:p.Leu603Arg
NM_001377212.1:c.1703T>G	NP_001364141.1:p.Leu568Arg
NM_001377213.1:c.1931T>G	NP_001364142.1:p.Leu644Arg
NM_005665.6:c.1802T>G	NP_005656.4:p.Leu601Arg