Canonical Allele Identifier: CA341152118

Gene: EVI5

Linked Data

• gnomAD v4: 1-92607659-C-G
• MyVariant Identifiers: chr1:g.93073216C>G (hg19) ; chr1:g.92607659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607659C>G , CM000663.2:g.92607659C>G	GRCh38
NC_000001.10:g.93073216C>G , CM000663.1:g.93073216C>G	GRCh37
NC_000001.9:g.92845804C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1881G>C	ENSP00000440826.2:p.Gln627His
ENST00000706843.1:c.1872G>C	ENSP00000516584.1:p.Gln624His
ENST00000706845.1:c.*1729G>C	ENSP00000516587.1:n.*1729G>C
ENST00000706846.1:c.1896G>C	ENSP00000516588.1:p.Gln632His
ENST00000706867.1:c.1977G>C	ENSP00000516594.1:p.Gln659His
ENST00000706868.1:c.1896G>C	ENSP00000516595.1:p.Gln632His
ENST00000706869.1:n.310-3860G>C
ENST00000706883.1:c.684G>C	ENSP00000516600.1:p.Gln228His
ENST00000706885.1:c.1761G>C	ENSP00000516601.1:p.Gln587His
ENST00000684568.2:c.1896G>C MANE Select	ENSP00000506999.1:p.Gln632His
ENST00000370331.5:c.1848G>C	ENSP00000359356.1:p.Gln616His
ENST00000468580.5:n.611G>C
ENST00000491940.5:n.701G>C
ENST00000492513.5:n.369G>C
ENST00000540033.2:c.1881G>C	ENSP00000440826.2:p.Gln627His
NM_001308248.1:c.1881G>C	NP_001295177.1:p.Gln627His
NM_005665.4:c.1848G>C	NP_005656.4:p.Gln616His
NM_005665.5:c.1848G>C	NP_005656.4:p.Gln616His
XM_011542099.1:c.2100G>C	XP_011540401.1:p.Gln700His
XM_011542100.1:c.2100G>C	XP_011540402.1:p.Gln700His
XM_011542101.1:c.1977G>C	XP_011540403.1:p.Gln659His
XM_011542102.1:c.1953G>C	XP_011540404.1:p.Gln651His
XM_011542103.1:c.2032-2257G>C	XP_011540405.1:n.2032-2257G>C
XM_011542104.1:c.1941G>C	XP_011540406.1:p.Gln647His
XM_011542105.1:c.1920G>C	XP_011540407.1:p.Gln640His
XM_011542107.1:c.1848G>C	XP_011540409.1:p.Gln616His
XM_011542108.1:c.2100G>C	XP_011540410.1:p.Gln700His
XM_011542109.1:c.2100G>C	XP_011540411.1:p.Gln700His
NM_001350197.1:c.1896G>C	NP_001337126.1:p.Gln632His
NM_001350198.1:c.1896G>C	NP_001337127.1:p.Gln632His
XM_017002269.1:c.2109G>C	XP_016857758.1:p.Gln703His
XM_017002270.2:c.2100G>C	XP_016857759.1:p.Gln700His
XM_017002271.2:c.2028G>C	XP_016857760.1:p.Gln676His
XM_017002272.1:c.2109G>C	XP_016857761.1:p.Gln703His
XM_017002273.2:c.1977G>C	XP_016857762.1:p.Gln659His
XM_017002274.1:c.1977G>C	XP_016857763.1:p.Gln659His
XM_017002275.1:c.1977G>C	XP_016857764.1:p.Gln659His
XM_017002276.2:c.1896G>C	XP_016857765.1:p.Gln632His
XM_017002277.1:c.1881G>C	XP_016857766.1:p.Gln627His
XM_017002278.1:c.1962G>C	XP_016857767.1:p.Gln654His
XM_017002279.1:c.1842G>C	XP_016857768.1:p.Gln614His
XM_017002281.2:c.1872G>C	XP_016857770.1:p.Gln624His
XM_017002282.1:c.2109G>C	XP_016857771.1:p.Gln703His
XM_017002283.1:c.2028G>C	XP_016857772.1:p.Gln676His
XM_017002284.2:c.1749G>C	XP_016857773.1:p.Gln583His
XM_017002286.2:c.1485G>C	XP_016857775.1:p.Gln495His
XM_017002287.2:c.1485G>C	XP_016857776.1:p.Gln495His
XM_017002288.1:c.1485G>C	XP_016857777.1:p.Gln495His
XM_024449686.1:c.2028G>C	XP_024305454.1:p.Gln676His
XM_024449689.1:c.1929G>C	XP_024305457.1:p.Gln643His
XM_024449690.1:c.1761G>C	XP_024305458.1:p.Gln587His
NM_001308248.2:c.1881G>C	NP_001295177.1:p.Gln627His
NM_001350197.2:c.1896G>C MANE Select	NP_001337126.1:p.Gln632His
NM_001350198.2:c.1896G>C	NP_001337127.1:p.Gln632His
NM_001377210.1:c.1872G>C	NP_001364139.1:p.Gln624His
NM_001377211.1:c.1854G>C	NP_001364140.1:p.Gln618His
NM_001377212.1:c.1749G>C	NP_001364141.1:p.Gln583His
NM_001377213.1:c.1977G>C	NP_001364142.1:p.Gln659His
NM_005665.6:c.1848G>C	NP_005656.4:p.Gln616His