Canonical Allele Identifier: CA14983459
Community Standard Title: NM_002972.4(SBF1):c.5364-182A>G
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447791T>C , CM000684.2:g.50447791T>C GRCh38
NC_000022.10:g.50886220T>C , CM000684.1:g.50886220T>C GRCh37
NC_000022.9:g.49233086T>C NCBI36
NG_041810.1:g.32281A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.5364-182A>G MANE Select NP_002963.2:n.5364-182A>G
ENST00000380817.8:c.5364-182A>G MANE Select ENSP00000370196.2:n.5364-182A>G
NM_001365819.1:c.5289-182A>G NP_001352748.1:n.5289-182A>G
NM_002972.3:c.5364-182A>G NP_002963.2:n.5364-182A>G
ENST00000348911.10:c.5289-182A>G ENSP00000252027.7:n.5289-182A>G
ENST00000348911.11:c.5286-182A>G ENSP00000252027.8:n.5286-182A>G
ENST00000380817.7:c.5364-182A>G ENSP00000370196.2:n.5364-182A>G
ENST00000418590.3:c.928-182A>G
ENST00000418590.4:c.960-182A>G ENSP00000401538.2:n.960-182A>G
ENST00000470434.1:n.1505-182A>G
ENST00000470434.2:n.1767-182A>G
ENST00000473724.2:n.503-182A>G
ENST00000684986.1:c.5367-182A>G ENSP00000509117.1:n.5367-182A>G
ENST00000685180.1:n.2907-182A>G
ENST00000685390.1:n.3315-182A>G
ENST00000685411.1:n.1555A>G
ENST00000685459.1:c.516-182A>G ENSP00000509511.1:n.516-182A>G
ENST00000685592.1:c.1614-182A>G
ENST00000685809.1:c.5277-182A>G ENSP00000508863.1:n.5277-182A>G
ENST00000686191.1:n.4564-182A>G
ENST00000686222.1:c.*4786-182A>G ENSP00000508737.1:n.*4786-182A>G
ENST00000686321.1:c.1624A>G
ENST00000686427.1:c.*2296-182A>G ENSP00000510379.1:n.*2296-182A>G
ENST00000686758.1:n.3178-182A>G
ENST00000686801.1:c.*202-182A>G ENSP00000509915.1:n.*202-182A>G
ENST00000686826.1:n.1683-182A>G
ENST00000687016.1:c.5262-182A>G ENSP00000509074.1:n.5262-182A>G
ENST00000687704.1:c.*3160-182A>G ENSP00000510454.1:n.*3160-182A>G
ENST00000688066.1:c.5364-182A>G ENSP00000510782.1:n.5364-182A>G
ENST00000688124.1:c.*4265-182A>G ENSP00000510645.1:n.*4265-182A>G
ENST00000688381.1:c.516-182A>G ENSP00000508847.1:n.516-182A>G
ENST00000688848.1:c.*4708-182A>G ENSP00000509419.1:n.*4708-182A>G
ENST00000688985.1:c.2365-182A>G ENSP00000510477.1:n.2365-182A>G
ENST00000689129.1:c.5289-182A>G ENSP00000510414.1:n.5289-182A>G
ENST00000689177.1:n.6633-182A>G
ENST00000689849.1:c.1449-182A>G
ENST00000689981.1:c.5364-182A>G ENSP00000509035.1:n.5364-182A>G
ENST00000690369.1:n.5382-182A>G
ENST00000690590.1:n.2411-182A>G
ENST00000690990.1:c.5358-182A>G ENSP00000510461.1:n.5358-182A>G
ENST00000691233.1:c.5283-182A>G ENSP00000509215.1:n.5283-182A>G
ENST00000691345.1:n.2623-182A>G
ENST00000691792.1:c.5349-182A>G ENSP00000509911.1:n.5349-182A>G
ENST00000691959.1:n.6524A>G
ENST00000692844.1:n.2448-182A>G
ENST00000692946.1:c.1460-182A>G
ENST00000693052.1:c.5382-182A>G ENSP00000509558.1:n.5382-182A>G
ENST00000693068.1:c.447-182A>G ENSP00000509997.1:n.447-182A>G
ENST00000693440.1:c.5361-182A>G ENSP00000509462.1:n.5361-182A>G
ENST00000693591.1:n.4172-182A>G
XM_005261931.1:c.5367-182A>G XP_005261988.1:n.5367-182A>G
XM_005261935.1:c.5286-182A>G XP_005261992.1:n.5286-182A>G
XM_005261935.2:c.5286-182A>G XP_005261992.1:n.5286-182A>G
XM_011530707.1:c.5466-182A>G XP_011529009.1:n.5466-182A>G
XM_011530708.1:c.5418-182A>G XP_011529010.1:n.5418-182A>G
XM_011530709.1:c.5394-182A>G XP_011529011.1:n.5394-182A>G
XM_011530709.2:c.5394-182A>G XP_011529011.1:n.5394-182A>G
XM_011530710.1:c.5391-182A>G XP_011529012.1:n.5391-182A>G
XM_011530710.2:c.5391-182A>G XP_011529012.1:n.5391-182A>G
XM_011530711.1:c.5391-182A>G XP_011529013.1:n.5391-182A>G
XM_017028905.2:c.5316-182A>G XP_016884394.1:n.5316-182A>G
XR_938344.1:n.5484-182A>G