Canonical Allele Identifier: CA515382734

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893166C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454737C>A , CM000684.2:g.50454737C>A	GRCh38
NC_000022.10:g.50893166C>A , CM000684.1:g.50893166C>A	GRCh37
NC_000022.9:g.49240032C>A	NCBI36
NG_041810.1:g.25335G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4740G>T	ENSP00000252027.8:p.Leu1580=
ENST00000418590.4:c.445-31G>T	ENSP00000401538.2:n.445-31G>T
ENST00000470434.2:n.1221G>T
ENST00000684986.1:c.4821G>T	ENSP00000509117.1:p.Leu1607=
ENST00000685180.1:n.2488+5797G>T
ENST00000685390.1:n.2781-12G>T
ENST00000685411.1:n.568G>T
ENST00000685592.1:c.1052G>T
ENST00000685809.1:c.4731G>T	ENSP00000508863.1:p.Leu1577=
ENST00000686191.1:n.4018G>T
ENST00000686222.1:c.*4240G>T	ENSP00000508737.1:n.*4240G>T
ENST00000686321.1:c.914G>T
ENST00000686427.1:c.*1753G>T	ENSP00000510379.1:n.*1753G>T
ENST00000686758.1:n.2632G>T
ENST00000686801.1:c.4806G>T	ENSP00000509915.1:p.Leu1602=
ENST00000686826.1:n.1137G>T
ENST00000687016.1:c.4719G>T	ENSP00000509074.1:p.Leu1573=
ENST00000687704.1:c.*2614G>T	ENSP00000510454.1:n.*2614G>T
ENST00000688066.1:c.4818G>T	ENSP00000510782.1:p.Leu1606=
ENST00000688124.1:c.*3731-12G>T	ENSP00000510645.1:n.*3731-12G>T
ENST00000688848.1:c.*4162G>T	ENSP00000509419.1:n.*4162G>T
ENST00000688985.1:c.1819G>T	ENSP00000510477.1:n.1819G>T
ENST00000689129.1:c.4743G>T	ENSP00000510414.1:p.Leu1581=
ENST00000689177.1:n.6090G>T
ENST00000689849.1:c.914G>T
ENST00000689981.1:c.4818G>T	ENSP00000509035.1:p.Leu1606=
ENST00000690369.1:n.4836G>T
ENST00000690590.1:n.1865G>T
ENST00000690990.1:c.4812G>T	ENSP00000510461.1:p.Leu1604=
ENST00000691233.1:c.4737G>T	ENSP00000509215.1:p.Leu1579=
ENST00000691306.1:c.899G>T
ENST00000691345.1:n.2302+1479G>T
ENST00000691792.1:c.4806G>T	ENSP00000509911.1:p.Leu1602=
ENST00000691959.1:n.5537G>T
ENST00000692844.1:n.1902G>T
ENST00000692946.1:c.914G>T
ENST00000693052.1:c.4836G>T	ENSP00000509558.1:p.Leu1612=
ENST00000693289.1:n.1977G>T
ENST00000693440.1:c.4815G>T	ENSP00000509462.1:p.Leu1605=
ENST00000693499.1:n.5814G>T
ENST00000693591.1:n.3626G>T
ENST00000380817.8:c.4818G>T MANE Select	ENSP00000370196.2:p.Leu1606=
ENST00000348911.10:c.4743G>T	ENSP00000252027.7:p.Leu1581=
ENST00000380817.7:c.4818G>T	ENSP00000370196.2:p.Leu1606=
ENST00000418590.3:c.413-31G>T
ENST00000470434.1:n.959G>T
NM_002972.3:c.4818G>T	NP_002963.2:p.Leu1606=
XM_005261931.1:c.4821G>T	XP_005261988.1:p.Leu1607=
XM_005261935.1:c.4740G>T	XP_005261992.1:p.Leu1580=
XM_011530707.1:c.4920G>T	XP_011529009.1:p.Leu1640=
XM_011530708.1:c.4872G>T	XP_011529010.1:p.Leu1624=
XM_011530709.1:c.4848G>T	XP_011529011.1:p.Leu1616=
XM_011530710.1:c.4845G>T	XP_011529012.1:p.Leu1615=
XM_011530711.1:c.4845G>T	XP_011529013.1:p.Leu1615=
XR_938344.1:n.4938G>T
NM_001365819.1:c.4743G>T	NP_001352748.1:p.Leu1581=
XM_005261935.2:c.4740G>T	XP_005261992.1:p.Leu1580=
XM_011530709.2:c.4848G>T	XP_011529011.1:p.Leu1616=
XM_011530710.2:c.4845G>T	XP_011529012.1:p.Leu1615=
XM_017028905.2:c.4770G>T	XP_016884394.1:p.Leu1590=
NM_002972.4:c.4818G>T MANE Select	NP_002963.2:p.Leu1606=