Canonical Allele Identifier: CA412195381

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893552A>C (hg19) ; chr22:g.50455123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455123A>C , CM000684.2:g.50455123A>C	GRCh38
NC_000022.10:g.50893552A>C , CM000684.1:g.50893552A>C	GRCh37
NC_000022.9:g.49240418A>C	NCBI36
NG_041810.1:g.24949T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4496T>G	ENSP00000252027.8:p.Met1499Arg
ENST00000418590.4:c.206T>G	ENSP00000401538.2:p.Met69Arg
ENST00000470434.2:n.977T>G
ENST00000684986.1:c.4577T>G	ENSP00000509117.1:p.Met1526Arg
ENST00000685180.1:n.2488+5411T>G
ENST00000685390.1:n.2542T>G
ENST00000685411.1:n.324T>G
ENST00000685592.1:c.808T>G
ENST00000685809.1:c.4487T>G	ENSP00000508863.1:p.Met1496Arg
ENST00000686029.1:c.652T>G
ENST00000686191.1:n.3774T>G
ENST00000686222.1:c.*3996T>G	ENSP00000508737.1:n.*3996T>G
ENST00000686321.1:c.670T>G
ENST00000686427.1:c.*1509T>G	ENSP00000510379.1:n.*1509T>G
ENST00000686758.1:n.2317T>G
ENST00000686801.1:c.4562T>G	ENSP00000509915.1:p.Met1521Arg
ENST00000686826.1:n.893T>G
ENST00000687016.1:c.4475T>G	ENSP00000509074.1:p.Met1492Arg
ENST00000687704.1:c.*2299T>G	ENSP00000510454.1:n.*2299T>G
ENST00000688066.1:c.4574T>G	ENSP00000510782.1:p.Met1525Arg
ENST00000688124.1:c.*3492T>G	ENSP00000510645.1:n.*3492T>G
ENST00000688848.1:c.*3918T>G	ENSP00000509419.1:n.*3918T>G
ENST00000688985.1:c.1575T>G	ENSP00000510477.1:n.1575T>G
ENST00000689129.1:c.4499T>G	ENSP00000510414.1:p.Met1500Arg
ENST00000689177.1:n.5846T>G
ENST00000689849.1:c.670T>G
ENST00000689981.1:c.4574T>G	ENSP00000509035.1:p.Met1525Arg
ENST00000690369.1:n.4592T>G
ENST00000690590.1:n.1621T>G
ENST00000690990.1:c.4568T>G	ENSP00000510461.1:p.Met1523Arg
ENST00000691233.1:c.4493T>G	ENSP00000509215.1:p.Met1498Arg
ENST00000691306.1:c.672T>G
ENST00000691345.1:n.2302+1093T>G
ENST00000691792.1:c.4562T>G	ENSP00000509911.1:p.Met1521Arg
ENST00000691959.1:n.5293T>G
ENST00000692844.1:n.1658T>G
ENST00000692946.1:c.670T>G
ENST00000693052.1:c.4592T>G	ENSP00000509558.1:p.Met1531Arg
ENST00000693289.1:n.1733T>G
ENST00000693440.1:c.4571T>G	ENSP00000509462.1:p.Met1524Arg
ENST00000693499.1:n.5499T>G
ENST00000693591.1:n.3311T>G
ENST00000380817.8:c.4574T>G MANE Select	ENSP00000370196.2:p.Met1525Arg
ENST00000348911.10:c.4499T>G	ENSP00000252027.7:p.Met1500Arg
ENST00000380817.7:c.4574T>G	ENSP00000370196.2:p.Met1525Arg
ENST00000418590.3:c.174T>G
ENST00000470434.1:n.715T>G
NM_002972.3:c.4574T>G	NP_002963.2:p.Met1525Arg
XM_005261931.1:c.4577T>G	XP_005261988.1:p.Met1526Arg
XM_005261935.1:c.4496T>G	XP_005261992.1:p.Met1499Arg
XM_011530707.1:c.4676T>G	XP_011529009.1:p.Met1559Arg
XM_011530708.1:c.4628T>G	XP_011529010.1:p.Met1543Arg
XM_011530709.1:c.4604T>G	XP_011529011.1:p.Met1535Arg
XM_011530710.1:c.4601T>G	XP_011529012.1:p.Met1534Arg
XM_011530711.1:c.4601T>G	XP_011529013.1:p.Met1534Arg
XR_938344.1:n.4694T>G
NM_001365819.1:c.4499T>G	NP_001352748.1:p.Met1500Arg
XM_005261935.2:c.4496T>G	XP_005261992.1:p.Met1499Arg
XM_011530709.2:c.4604T>G	XP_011529011.1:p.Met1535Arg
XM_011530710.2:c.4601T>G	XP_011529012.1:p.Met1534Arg
XM_017028905.2:c.4526T>G	XP_016884394.1:p.Met1509Arg
NM_002972.4:c.4574T>G MANE Select	NP_002963.2:p.Met1525Arg