Canonical Allele Identifier: CA341152383

Gene: EVI5

Linked Data

• MyVariant Identifiers: chr1:g.93073280T>A (hg19) ; chr1:g.92607723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607723T>A , CM000663.2:g.92607723T>A	GRCh38
NC_000001.10:g.93073280T>A , CM000663.1:g.93073280T>A	GRCh37
NC_000001.9:g.92845868T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1817A>T	ENSP00000440826.2:p.Gln606Leu
ENST00000706843.1:c.1808A>T	ENSP00000516584.1:p.Gln603Leu
ENST00000706845.1:c.*1665A>T	ENSP00000516587.1:n.*1665A>T
ENST00000706846.1:c.1832A>T	ENSP00000516588.1:p.Gln611Leu
ENST00000706867.1:c.1913A>T	ENSP00000516594.1:p.Gln638Leu
ENST00000706868.1:c.1832A>T	ENSP00000516595.1:p.Gln611Leu
ENST00000706869.1:n.310-3924A>T
ENST00000706883.1:c.620A>T	ENSP00000516600.1:p.Gln207Leu
ENST00000706885.1:c.1697A>T	ENSP00000516601.1:p.Gln566Leu
ENST00000684568.2:c.1832A>T MANE Select	ENSP00000506999.1:p.Gln611Leu
ENST00000370331.5:c.1784A>T	ENSP00000359356.1:p.Gln595Leu
ENST00000468580.5:n.547A>T
ENST00000491940.5:n.637A>T
ENST00000492513.5:n.305A>T
ENST00000540033.2:c.1817A>T	ENSP00000440826.2:p.Gln606Leu
NM_001308248.1:c.1817A>T	NP_001295177.1:p.Gln606Leu
NM_005665.4:c.1784A>T	NP_005656.4:p.Gln595Leu
NM_005665.5:c.1784A>T	NP_005656.4:p.Gln595Leu
XM_011542099.1:c.2036A>T	XP_011540401.1:p.Gln679Leu
XM_011542100.1:c.2036A>T	XP_011540402.1:p.Gln679Leu
XM_011542101.1:c.1913A>T	XP_011540403.1:p.Gln638Leu
XM_011542102.1:c.1889A>T	XP_011540404.1:p.Gln630Leu
XM_011542103.1:c.2032-2321A>T	XP_011540405.1:n.2032-2321A>T
XM_011542104.1:c.1877A>T	XP_011540406.1:p.Gln626Leu
XM_011542105.1:c.1856A>T	XP_011540407.1:p.Gln619Leu
XM_011542107.1:c.1784A>T	XP_011540409.1:p.Gln595Leu
XM_011542108.1:c.2036A>T	XP_011540410.1:p.Gln679Leu
XM_011542109.1:c.2036A>T	XP_011540411.1:p.Gln679Leu
NM_001350197.1:c.1832A>T	NP_001337126.1:p.Gln611Leu
NM_001350198.1:c.1832A>T	NP_001337127.1:p.Gln611Leu
XM_017002269.1:c.2045A>T	XP_016857758.1:p.Gln682Leu
XM_017002270.2:c.2036A>T	XP_016857759.1:p.Gln679Leu
XM_017002271.2:c.1964A>T	XP_016857760.1:p.Gln655Leu
XM_017002272.1:c.2045A>T	XP_016857761.1:p.Gln682Leu
XM_017002273.2:c.1913A>T	XP_016857762.1:p.Gln638Leu
XM_017002274.1:c.1913A>T	XP_016857763.1:p.Gln638Leu
XM_017002275.1:c.1913A>T	XP_016857764.1:p.Gln638Leu
XM_017002276.2:c.1832A>T	XP_016857765.1:p.Gln611Leu
XM_017002277.1:c.1817A>T	XP_016857766.1:p.Gln606Leu
XM_017002278.1:c.1898A>T	XP_016857767.1:p.Gln633Leu
XM_017002279.1:c.1778A>T	XP_016857768.1:p.Gln593Leu
XM_017002281.2:c.1808A>T	XP_016857770.1:p.Gln603Leu
XM_017002282.1:c.2045A>T	XP_016857771.1:p.Gln682Leu
XM_017002283.1:c.1964A>T	XP_016857772.1:p.Gln655Leu
XM_017002284.2:c.1685A>T	XP_016857773.1:p.Gln562Leu
XM_017002286.2:c.1421A>T	XP_016857775.1:p.Gln474Leu
XM_017002287.2:c.1421A>T	XP_016857776.1:p.Gln474Leu
XM_017002288.1:c.1421A>T	XP_016857777.1:p.Gln474Leu
XM_024449686.1:c.1964A>T	XP_024305454.1:p.Gln655Leu
XM_024449689.1:c.1865A>T	XP_024305457.1:p.Gln622Leu
XM_024449690.1:c.1697A>T	XP_024305458.1:p.Gln566Leu
NM_001308248.2:c.1817A>T	NP_001295177.1:p.Gln606Leu
NM_001350197.2:c.1832A>T MANE Select	NP_001337126.1:p.Gln611Leu
NM_001350198.2:c.1832A>T	NP_001337127.1:p.Gln611Leu
NM_001377210.1:c.1808A>T	NP_001364139.1:p.Gln603Leu
NM_001377211.1:c.1790A>T	NP_001364140.1:p.Gln597Leu
NM_001377212.1:c.1685A>T	NP_001364141.1:p.Gln562Leu
NM_001377213.1:c.1913A>T	NP_001364142.1:p.Gln638Leu
NM_005665.6:c.1784A>T	NP_005656.4:p.Gln595Leu