Canonical Allele Identifier: CA951683

Gene: EVI5

Linked Data

• dbSNP Id: rs150908969
• ExAC: 1:93073176 T / G
• gnomAD v2: 1-93073176-T-G
• gnomAD v3: 1-92607619-T-G
• gnomAD v4: 1-92607619-T-G
• MyVariant Identifiers: chr1:g.93073176T>G (hg19) ; chr1:g.92607619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607619T>G , CM000663.2:g.92607619T>G	GRCh38
NC_000001.10:g.93073176T>G , CM000663.1:g.93073176T>G	GRCh37
NC_000001.9:g.92845764T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1921A>C	ENSP00000440826.2:p.Ser641Arg
ENST00000706843.1:c.1912A>C	ENSP00000516584.1:p.Ser638Arg
ENST00000706845.1:c.*1769A>C	ENSP00000516587.1:n.*1769A>C
ENST00000706846.1:c.1936A>C	ENSP00000516588.1:p.Ser646Arg
ENST00000706867.1:c.2017A>C	ENSP00000516594.1:p.Ser673Arg
ENST00000706868.1:c.1936A>C	ENSP00000516595.1:p.Ser646Arg
ENST00000706869.1:n.310-3820A>C
ENST00000706883.1:c.724A>C	ENSP00000516600.1:p.Ser242Arg
ENST00000706885.1:c.1801A>C	ENSP00000516601.1:p.Ser601Arg
ENST00000684568.2:c.1936A>C MANE Select	ENSP00000506999.1:p.Ser646Arg
ENST00000370331.5:c.1888A>C	ENSP00000359356.1:p.Ser630Arg
ENST00000468580.5:n.651A>C
ENST00000491940.5:n.741A>C
ENST00000492513.5:n.409A>C
ENST00000540033.2:c.1921A>C	ENSP00000440826.2:p.Ser641Arg
NM_001308248.1:c.1921A>C	NP_001295177.1:p.Ser641Arg
NM_005665.4:c.1888A>C	NP_005656.4:p.Ser630Arg
NM_005665.5:c.1888A>C	NP_005656.4:p.Ser630Arg
XM_011542099.1:c.2140A>C	XP_011540401.1:p.Ser714Arg
XM_011542100.1:c.2140A>C	XP_011540402.1:p.Ser714Arg
XM_011542101.1:c.2017A>C	XP_011540403.1:p.Ser673Arg
XM_011542102.1:c.1993A>C	XP_011540404.1:p.Ser665Arg
XM_011542103.1:c.2032-2217A>C	XP_011540405.1:n.2032-2217A>C
XM_011542104.1:c.1981A>C	XP_011540406.1:p.Ser661Arg
XM_011542105.1:c.1960A>C	XP_011540407.1:p.Ser654Arg
XM_011542107.1:c.1888A>C	XP_011540409.1:p.Ser630Arg
XM_011542108.1:c.2140A>C	XP_011540410.1:p.Ser714Arg
XM_011542109.1:c.2140A>C	XP_011540411.1:p.Ser714Arg
NM_001350197.1:c.1936A>C	NP_001337126.1:p.Ser646Arg
NM_001350198.1:c.1936A>C	NP_001337127.1:p.Ser646Arg
XM_017002269.1:c.2149A>C	XP_016857758.1:p.Ser717Arg
XM_017002270.2:c.2140A>C	XP_016857759.1:p.Ser714Arg
XM_017002271.2:c.2068A>C	XP_016857760.1:p.Ser690Arg
XM_017002272.1:c.2149A>C	XP_016857761.1:p.Ser717Arg
XM_017002273.2:c.2017A>C	XP_016857762.1:p.Ser673Arg
XM_017002274.1:c.2017A>C	XP_016857763.1:p.Ser673Arg
XM_017002275.1:c.2017A>C	XP_016857764.1:p.Ser673Arg
XM_017002276.2:c.1936A>C	XP_016857765.1:p.Ser646Arg
XM_017002277.1:c.1921A>C	XP_016857766.1:p.Ser641Arg
XM_017002278.1:c.2002A>C	XP_016857767.1:p.Ser668Arg
XM_017002279.1:c.1882A>C	XP_016857768.1:p.Ser628Arg
XM_017002281.2:c.1912A>C	XP_016857770.1:p.Ser638Arg
XM_017002282.1:c.2149A>C	XP_016857771.1:p.Ser717Arg
XM_017002283.1:c.2068A>C	XP_016857772.1:p.Ser690Arg
XM_017002284.2:c.1789A>C	XP_016857773.1:p.Ser597Arg
XM_017002286.2:c.1525A>C	XP_016857775.1:p.Ser509Arg
XM_017002287.2:c.1525A>C	XP_016857776.1:p.Ser509Arg
XM_017002288.1:c.1525A>C	XP_016857777.1:p.Ser509Arg
XM_024449686.1:c.2068A>C	XP_024305454.1:p.Ser690Arg
XM_024449689.1:c.1969A>C	XP_024305457.1:p.Ser657Arg
XM_024449690.1:c.1801A>C	XP_024305458.1:p.Ser601Arg
NM_001308248.2:c.1921A>C	NP_001295177.1:p.Ser641Arg
NM_001350197.2:c.1936A>C MANE Select	NP_001337126.1:p.Ser646Arg
NM_001350198.2:c.1936A>C	NP_001337127.1:p.Ser646Arg
NM_001377210.1:c.1912A>C	NP_001364139.1:p.Ser638Arg
NM_001377211.1:c.1894A>C	NP_001364140.1:p.Ser632Arg
NM_001377212.1:c.1789A>C	NP_001364141.1:p.Ser597Arg
NM_001377213.1:c.2017A>C	NP_001364142.1:p.Ser673Arg
NM_005665.6:c.1888A>C	NP_005656.4:p.Ser630Arg