Canonical Allele Identifier: CA515382742

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454740-G-A
• MyVariant Identifiers: chr22:g.50893169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454740G>A , CM000684.2:g.50454740G>A	GRCh38
NC_000022.10:g.50893169G>A , CM000684.1:g.50893169G>A	GRCh37
NC_000022.9:g.49240035G>A	NCBI36
NG_041810.1:g.25332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4737C>T	ENSP00000252027.8:p.Val1579=
ENST00000418590.4:c.445-34C>T	ENSP00000401538.2:n.445-34C>T
ENST00000470434.2:n.1218C>T
ENST00000684986.1:c.4818C>T	ENSP00000509117.1:p.Val1606=
ENST00000685180.1:n.2488+5794C>T
ENST00000685390.1:n.2781-15C>T
ENST00000685411.1:n.565C>T
ENST00000685592.1:c.1049C>T
ENST00000685809.1:c.4728C>T	ENSP00000508863.1:p.Val1576=
ENST00000686191.1:n.4015C>T
ENST00000686222.1:c.*4237C>T	ENSP00000508737.1:n.*4237C>T
ENST00000686321.1:c.911C>T
ENST00000686427.1:c.*1750C>T	ENSP00000510379.1:n.*1750C>T
ENST00000686758.1:n.2629C>T
ENST00000686801.1:c.4803C>T	ENSP00000509915.1:p.Val1601=
ENST00000686826.1:n.1134C>T
ENST00000687016.1:c.4716C>T	ENSP00000509074.1:p.Val1572=
ENST00000687704.1:c.*2611C>T	ENSP00000510454.1:n.*2611C>T
ENST00000688066.1:c.4815C>T	ENSP00000510782.1:p.Val1605=
ENST00000688124.1:c.*3731-15C>T	ENSP00000510645.1:n.*3731-15C>T
ENST00000688848.1:c.*4159C>T	ENSP00000509419.1:n.*4159C>T
ENST00000688985.1:c.1816C>T	ENSP00000510477.1:n.1816C>T
ENST00000689129.1:c.4740C>T	ENSP00000510414.1:p.Val1580=
ENST00000689177.1:n.6087C>T
ENST00000689849.1:c.911C>T
ENST00000689981.1:c.4815C>T	ENSP00000509035.1:p.Val1605=
ENST00000690369.1:n.4833C>T
ENST00000690590.1:n.1862C>T
ENST00000690990.1:c.4809C>T	ENSP00000510461.1:p.Val1603=
ENST00000691233.1:c.4734C>T	ENSP00000509215.1:p.Val1578=
ENST00000691306.1:c.896C>T
ENST00000691345.1:n.2302+1476C>T
ENST00000691792.1:c.4803C>T	ENSP00000509911.1:p.Val1601=
ENST00000691959.1:n.5534C>T
ENST00000692844.1:n.1899C>T
ENST00000692946.1:c.911C>T
ENST00000693052.1:c.4833C>T	ENSP00000509558.1:p.Val1611=
ENST00000693289.1:n.1974C>T
ENST00000693440.1:c.4812C>T	ENSP00000509462.1:p.Val1604=
ENST00000693499.1:n.5811C>T
ENST00000693591.1:n.3623C>T
ENST00000380817.8:c.4815C>T MANE Select	ENSP00000370196.2:p.Val1605=
ENST00000348911.10:c.4740C>T	ENSP00000252027.7:p.Val1580=
ENST00000380817.7:c.4815C>T	ENSP00000370196.2:p.Val1605=
ENST00000418590.3:c.413-34C>T
ENST00000470434.1:n.956C>T
NM_002972.3:c.4815C>T	NP_002963.2:p.Val1605=
XM_005261931.1:c.4818C>T	XP_005261988.1:p.Val1606=
XM_005261935.1:c.4737C>T	XP_005261992.1:p.Val1579=
XM_011530707.1:c.4917C>T	XP_011529009.1:p.Val1639=
XM_011530708.1:c.4869C>T	XP_011529010.1:p.Val1623=
XM_011530709.1:c.4845C>T	XP_011529011.1:p.Val1615=
XM_011530710.1:c.4842C>T	XP_011529012.1:p.Val1614=
XM_011530711.1:c.4842C>T	XP_011529013.1:p.Val1614=
XR_938344.1:n.4935C>T
NM_001365819.1:c.4740C>T	NP_001352748.1:p.Val1580=
XM_005261935.2:c.4737C>T	XP_005261992.1:p.Val1579=
XM_011530709.2:c.4845C>T	XP_011529011.1:p.Val1615=
XM_011530710.2:c.4842C>T	XP_011529012.1:p.Val1614=
XM_017028905.2:c.4767C>T	XP_016884394.1:p.Val1589=
NM_002972.4:c.4815C>T MANE Select	NP_002963.2:p.Val1605=