Canonical Allele Identifier: CA412195378

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893551C>G (hg19) ; chr22:g.50455122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455122C>G , CM000684.2:g.50455122C>G	GRCh38
NC_000022.10:g.50893551C>G , CM000684.1:g.50893551C>G	GRCh37
NC_000022.9:g.49240417C>G	NCBI36
NG_041810.1:g.24950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4497G>C	ENSP00000252027.8:p.Met1499Ile
ENST00000418590.4:c.207G>C	ENSP00000401538.2:p.Met69Ile
ENST00000470434.2:n.978G>C
ENST00000684986.1:c.4578G>C	ENSP00000509117.1:p.Met1526Ile
ENST00000685180.1:n.2488+5412G>C
ENST00000685390.1:n.2543G>C
ENST00000685411.1:n.325G>C
ENST00000685592.1:c.809G>C
ENST00000685809.1:c.4488G>C	ENSP00000508863.1:p.Met1496Ile
ENST00000686029.1:c.653G>C
ENST00000686191.1:n.3775G>C
ENST00000686222.1:c.*3997G>C	ENSP00000508737.1:n.*3997G>C
ENST00000686321.1:c.671G>C
ENST00000686427.1:c.*1510G>C	ENSP00000510379.1:n.*1510G>C
ENST00000686758.1:n.2318G>C
ENST00000686801.1:c.4563G>C	ENSP00000509915.1:p.Met1521Ile
ENST00000686826.1:n.894G>C
ENST00000687016.1:c.4476G>C	ENSP00000509074.1:p.Met1492Ile
ENST00000687704.1:c.*2300G>C	ENSP00000510454.1:n.*2300G>C
ENST00000688066.1:c.4575G>C	ENSP00000510782.1:p.Met1525Ile
ENST00000688124.1:c.*3493G>C	ENSP00000510645.1:n.*3493G>C
ENST00000688848.1:c.*3919G>C	ENSP00000509419.1:n.*3919G>C
ENST00000688985.1:c.1576G>C	ENSP00000510477.1:n.1576G>C
ENST00000689129.1:c.4500G>C	ENSP00000510414.1:p.Met1500Ile
ENST00000689177.1:n.5847G>C
ENST00000689849.1:c.671G>C
ENST00000689981.1:c.4575G>C	ENSP00000509035.1:p.Met1525Ile
ENST00000690369.1:n.4593G>C
ENST00000690590.1:n.1622G>C
ENST00000690990.1:c.4569G>C	ENSP00000510461.1:p.Met1523Ile
ENST00000691233.1:c.4494G>C	ENSP00000509215.1:p.Met1498Ile
ENST00000691306.1:c.673G>C
ENST00000691345.1:n.2302+1094G>C
ENST00000691792.1:c.4563G>C	ENSP00000509911.1:p.Met1521Ile
ENST00000691959.1:n.5294G>C
ENST00000692844.1:n.1659G>C
ENST00000692946.1:c.671G>C
ENST00000693052.1:c.4593G>C	ENSP00000509558.1:p.Met1531Ile
ENST00000693289.1:n.1734G>C
ENST00000693440.1:c.4572G>C	ENSP00000509462.1:p.Met1524Ile
ENST00000693499.1:n.5500G>C
ENST00000693591.1:n.3312G>C
ENST00000380817.8:c.4575G>C MANE Select	ENSP00000370196.2:p.Met1525Ile
ENST00000348911.10:c.4500G>C	ENSP00000252027.7:p.Met1500Ile
ENST00000380817.7:c.4575G>C	ENSP00000370196.2:p.Met1525Ile
ENST00000418590.3:c.175G>C
ENST00000470434.1:n.716G>C
NM_002972.3:c.4575G>C	NP_002963.2:p.Met1525Ile
XM_005261931.1:c.4578G>C	XP_005261988.1:p.Met1526Ile
XM_005261935.1:c.4497G>C	XP_005261992.1:p.Met1499Ile
XM_011530707.1:c.4677G>C	XP_011529009.1:p.Met1559Ile
XM_011530708.1:c.4629G>C	XP_011529010.1:p.Met1543Ile
XM_011530709.1:c.4605G>C	XP_011529011.1:p.Met1535Ile
XM_011530710.1:c.4602G>C	XP_011529012.1:p.Met1534Ile
XM_011530711.1:c.4602G>C	XP_011529013.1:p.Met1534Ile
XR_938344.1:n.4695G>C
NM_001365819.1:c.4500G>C	NP_001352748.1:p.Met1500Ile
XM_005261935.2:c.4497G>C	XP_005261992.1:p.Met1499Ile
XM_011530709.2:c.4605G>C	XP_011529011.1:p.Met1535Ile
XM_011530710.2:c.4602G>C	XP_011529012.1:p.Met1534Ile
XM_017028905.2:c.4527G>C	XP_016884394.1:p.Met1509Ile
NM_002972.4:c.4575G>C MANE Select	NP_002963.2:p.Met1525Ile