Canonical Allele Identifier: CA351646

Gene: FOXP1

Linked Data

• ClinVar Variation Id: 217265
• ClinVar RCV Id: RCV000207490 ; RCV001267938 ; RCV003417726
• dbSNP Id: rs869025203
• COSMIC: COSM195391
• MyVariant Identifiers: chr3:g.71021818G>A (hg19) ; chr3:g.70972667G>A (hg38)
• PubMed: PMID:26647308 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.70972667G>A , CM000665.2:g.70972667G>A	GRCh38
NC_000003.11:g.71021818G>A , CM000665.1:g.71021818G>A	GRCh37
NC_000003.10:g.71104508G>A	NCBI36
NG_028243.1:g.616323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318789.11:c.1540C>T	ENSP00000318902.5:p.Arg514Cys
ENST00000475937.6:c.979C>T	ENSP00000419393.2:p.Arg327Cys
ENST00000491238.8:c.1237C>T	ENSP00000420736.3:p.Arg413Cys
ENST00000498215.7:c.1540C>T	ENSP00000418102.1:p.Arg514Cys
ENST00000615603.5:n.1971C>T
ENST00000647829.2:n.1669C>T
ENST00000648710.2:c.1537C>T	ENSP00000497430.2:p.Arg513Cys
ENST00000648748.3:c.1240C>T	ENSP00000497077.3:p.Arg414Cys
ENST00000648794.2:c.1237C>T	ENSP00000497435.1:p.Arg413Cys
ENST00000649610.2:c.1537C>T	ENSP00000497693.2:p.Arg513Cys
ENST00000649695.3:c.1237C>T	ENSP00000496841.3:p.Arg413Cys
ENST00000650068.2:c.1540C>T	ENSP00000497454.2:p.Arg514Cys
ENST00000318789.10:c.1540C>T	ENSP00000318902.5:p.Arg514Cys
ENST00000327590.9:c.1540C>T	ENSP00000333560.4:p.Arg514Cys
ENST00000468577.6:c.1527+4274C>T	ENSP00000418883.2:n.1527+4274C>T
ENST00000491238.7:c.1237C>T	ENSP00000420736.3:p.Arg413Cys
ENST00000493089.7:c.1537C>T	ENSP00000418524.1:p.Arg513Cys
ENST00000497355.7:c.979C>T	ENSP00000418225.3:p.Arg327Cys
ENST00000498215.6:c.1540C>T	ENSP00000418102.1:p.Arg514Cys
ENST00000614176.5:c.1237C>T	ENSP00000482847.2:p.Arg413Cys
ENST00000644199.1:n.859C>T
ENST00000647725.1:c.1540C>T	ENSP00000497585.1:p.Arg514Cys
ENST00000647741.1:n.3043C>T
ENST00000648321.1:c.*444C>T	ENSP00000498015.1:n.*444C>T
ENST00000648380.1:c.1540C>T	ENSP00000497344.1:p.Arg514Cys
ENST00000648384.1:c.*444C>T	ENSP00000497976.1:n.*444C>T
ENST00000648426.1:c.1531-487C>T	ENSP00000498110.1:n.1531-487C>T
ENST00000648710.1:c.1537C>T	ENSP00000497430.1:p.Arg513Cys
ENST00000648718.1:c.1537C>T	ENSP00000496810.1:p.Arg513Cys
ENST00000648748.2:c.1237C>T	ENSP00000497077.2:p.Arg413Cys
ENST00000648794.1:c.1237C>T	ENSP00000497435.1:p.Arg413Cys
ENST00000649081.1:n.2914C>T
ENST00000649431.1:c.1525C>T	ENSP00000498174.1:p.Arg509Cys
ENST00000649513.1:c.979C>T	ENSP00000497237.1:p.Arg327Cys
ENST00000649528.3:c.1540C>T MANE Select	ENSP00000497369.1:p.Arg514Cys
ENST00000649592.1:c.1240C>T	ENSP00000496968.1:p.Arg414Cys
ENST00000649596.1:c.1534C>T	ENSP00000496932.1:p.Arg512Cys
ENST00000649610.1:c.1534C>T	ENSP00000497693.1:p.Arg512Cys
ENST00000649631.1:c.1540C>T	ENSP00000496990.1:p.Arg514Cys
ENST00000649695.2:c.1240C>T	ENSP00000496841.2:p.Arg414Cys
ENST00000650068.1:c.1540C>T	ENSP00000497454.1:p.Arg514Cys
ENST00000650123.1:c.2055C>T
ENST00000650188.1:c.1237C>T	ENSP00000497096.1:p.Arg413Cys
ENST00000650387.1:c.1240C>T	ENSP00000497567.1:p.Arg414Cys
ENST00000650402.1:c.1231-1862C>T	ENSP00000497563.1:n.1231-1862C>T
ENST00000650580.1:n.1363C>T
ENST00000674446.1:c.1546C>T	ENSP00000501439.1:p.Arg516Cys
ENST00000318789.8:c.1540C>T	ENSP00000318902.4:p.Arg514Cys
ENST00000327590.8:c.1540C>T	ENSP00000333560.4:p.Arg514Cys
ENST00000468577.5:c.1530+4274C>T	ENSP00000418883.1:n.1530+4274C>T
ENST00000475937.5:c.1540C>T	ENSP00000419393.1:p.Arg514Cys
ENST00000484350.5:c.1312C>T	ENSP00000417857.1:p.Arg438Cys
ENST00000491238.5:c.1546C>T	ENSP00000420736.1:p.Arg516Cys
ENST00000493089.5:c.1537C>T	ENSP00000418524.1:p.Arg513Cys
ENST00000497355.5:c.1228C>T	ENSP00000418225.1:p.Arg410Cys
ENST00000498215.5:c.1540C>T	ENSP00000418102.1:p.Arg514Cys
ENST00000614176.4:c.1240C>T	ENSP00000482847.1:p.Arg414Cys
ENST00000614183.1:n.391C>T
ENST00000615603.4:c.1531-487C>T	ENSP00000484803.1:n.1531-487C>T
NM_001244808.1:c.1537C>T	NP_001231737.1:p.Arg513Cys
NM_001244810.1:c.1531-487C>T	NP_001231739.1:n.1531-487C>T
NM_001244812.1:c.1312C>T	NP_001231741.1:p.Arg438Cys
NM_001244813.1:c.1240C>T	NP_001231742.1:p.Arg414Cys
NM_001244814.1:c.1540C>T	NP_001231743.1:p.Arg514Cys
NM_001244815.1:c.1546C>T	NP_001231744.1:p.Arg516Cys
NM_001244816.1:c.1540C>T	NP_001231745.1:p.Arg514Cys
NM_032682.5:c.1540C>T	NP_116071.2:p.Arg514Cys
XM_005264735.2:c.1543C>T	XP_005264792.1:p.Arg515Cys
XM_005264736.2:c.1543C>T	XP_005264793.1:p.Arg515Cys
XM_005264737.3:c.1537C>T	XP_005264794.1:p.Arg513Cys
XM_005264742.2:c.1237C>T	XP_005264799.1:p.Arg413Cys
XM_006713102.1:c.1540C>T	XP_006713165.1:p.Arg514Cys
XM_006713103.1:c.1540C>T	XP_006713166.1:p.Arg514Cys
XM_006713104.1:c.1540C>T	XP_006713167.1:p.Arg514Cys
XM_011533584.1:c.1540C>T	XP_011531886.1:p.Arg514Cys
XM_011533585.1:c.1540C>T	XP_011531887.1:p.Arg514Cys
XM_011533586.1:c.1540C>T	XP_011531888.1:p.Arg514Cys
XM_011533587.1:c.1540C>T	XP_011531889.1:p.Arg514Cys
XM_011533588.1:c.1240C>T	XP_011531890.1:p.Arg414Cys
XR_427266.2:n.5202C>T
XR_940413.1:n.1804C>T
XR_940414.1:n.5352C>T
NM_001349337.1:c.1543C>T	NP_001336266.1:p.Arg515Cys
NM_001349338.1:c.1540C>T	NP_001336267.1:p.Arg514Cys
NM_001349340.1:c.1540C>T	NP_001336269.1:p.Arg514Cys
NM_001349341.1:c.1537C>T	NP_001336270.1:p.Arg513Cys
NM_001349342.1:c.1240C>T	NP_001336271.1:p.Arg414Cys
NM_001349343.1:c.1237C>T	NP_001336272.1:p.Arg413Cys
NM_001349344.1:c.1237C>T	NP_001336273.1:p.Arg413Cys
NR_146142.1:n.2081C>T
NR_146143.1:n.2078C>T
XM_005264736.3:c.1543C>T	XP_005264793.1:p.Arg515Cys
XM_006713102.2:c.1540C>T	XP_006713165.1:p.Arg514Cys
XM_006713103.2:c.1540C>T	XP_006713166.1:p.Arg514Cys
XM_006713104.2:c.1540C>T	XP_006713167.1:p.Arg514Cys
XM_011533585.3:c.1540C>T	XP_011531887.1:p.Arg514Cys
XM_017006165.1:c.1540C>T	XP_016861654.1:p.Arg514Cys
XM_017006167.1:c.1540C>T	XP_016861656.1:p.Arg514Cys
XR_001740102.1:n.1357C>T
NM_001244808.2:c.1537C>T	NP_001231737.1:p.Arg513Cys
NM_001244812.2:c.1312C>T	NP_001231741.1:p.Arg438Cys
NM_001244813.2:c.1240C>T	NP_001231742.1:p.Arg414Cys
NM_001244814.2:c.1540C>T	NP_001231743.1:p.Arg514Cys
NM_001244815.2:c.1240C>T	NP_001231744.2:p.Arg414Cys
NM_001349337.2:c.1237C>T	NP_001336266.2:p.Arg413Cys
NM_001349338.2:c.1540C>T	NP_001336267.1:p.Arg514Cys
NM_001349340.2:c.1540C>T	NP_001336269.1:p.Arg514Cys
NM_001349341.2:c.1537C>T	NP_001336270.1:p.Arg513Cys
NM_001349342.2:c.1240C>T	NP_001336271.1:p.Arg414Cys
NM_001349343.2:c.1237C>T	NP_001336272.1:p.Arg413Cys
NM_001349344.2:c.1237C>T	NP_001336273.1:p.Arg413Cys
NM_001370548.1:c.1237C>T	NP_001357477.1:p.Arg413Cys
NM_032682.6:c.1540C>T	NP_116071.2:p.Arg514Cys
NR_146142.2:n.2056C>T
NR_146143.2:n.2053C>T
NM_001244808.3:c.1537C>T	NP_001231737.1:p.Arg513Cys
NM_001244810.2:c.1531-487C>T	NP_001231739.1:n.1531-487C>T
NM_001244812.3:c.1312C>T	NP_001231741.1:p.Arg438Cys
NM_001244813.3:c.1240C>T	NP_001231742.1:p.Arg414Cys
NM_001244814.3:c.1540C>T	NP_001231743.1:p.Arg514Cys
NM_001244816.2:c.1540C>T	NP_001231745.1:p.Arg514Cys
NM_001349338.3:c.1540C>T MANE Select	NP_001336267.1:p.Arg514Cys
NM_001349340.3:c.1540C>T	NP_001336269.1:p.Arg514Cys
NM_001349341.3:c.1537C>T	NP_001336270.1:p.Arg513Cys
NM_001349342.3:c.1240C>T	NP_001336271.1:p.Arg414Cys
NM_001349343.3:c.1237C>T	NP_001336272.1:p.Arg413Cys
NM_001349344.3:c.1237C>T	NP_001336273.1:p.Arg413Cys
NR_146142.3:n.2056C>T
NR_146143.3:n.2053C>T