Canonical Allele Identifier: CA2578151

Gene: CCDC14

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123915663G>A , CM000665.2:g.123915663G>A	GRCh38
NC_000003.11:g.123634510G>A , CM000665.1:g.123634510G>A	GRCh37
NC_000003.10:g.125117200G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409697.8:c.1834C>T MANE Select	ENSP00000386866.4:p.Arg612Cys
ENST00000433542.7:c.1711C>T	ENSP00000395706.3:p.Arg571Cys
ENST00000310351.8:c.1711C>T	ENSP00000312031.5:p.Arg571Cys
ENST00000409657.5:c.1877C>T	ENSP00000386481.1:n.1877C>T
ENST00000409697.7:c.1834C>T	ENSP00000386866.4:p.Arg612Cys
ENST00000419247.5:c.846-374C>T	ENSP00000400957.1:n.846-374C>T
ENST00000433542.6:c.1855C>T	ENSP00000395706.2:p.Arg619Cys
ENST00000463996.1:n.66-18050C>T
ENST00000479903.5:c.667+15439C>T
ENST00000483247.1:n.70-374C>T
ENST00000485727.5:c.1378C>T	ENSP00000418002.1:p.Arg460Cys
ENST00000488653.6:c.1855C>T	ENSP00000420180.3:p.Arg619Cys
ENST00000489746.5:c.1378C>T	ENSP00000418403.1:p.Arg460Cys
ENST00000495381.5:n.2586-531C>T
NM_001308317.1:c.1378C>T	NP_001295246.1:p.Arg460Cys
NM_022757.4:c.1855C>T	NP_073594.4:p.Arg619Cys
XM_005247710.3:c.1978C>T	XP_005247767.1:p.Arg660Cys
XM_005247711.3:c.1501C>T	XP_005247768.1:p.Arg501Cys
XM_005247713.2:c.1378C>T	XP_005247770.1:p.Arg460Cys
XM_005247714.2:c.1378C>T	XP_005247771.1:p.Arg460Cys
XM_005247715.3:c.1922+15439C>T	XP_005247772.1:n.1922+15439C>T
XM_005247716.3:c.*54C>T	XP_005247773.1:n.*54C>T
XM_006713731.2:c.1923-374C>T	XP_006713794.1:n.1923-374C>T
XM_006713732.1:c.1378C>T	XP_006713795.1:p.Arg460Cys
XM_006713733.2:c.1446-374C>T	XP_006713796.1:n.1446-374C>T
XM_011513079.1:c.1498C>T	XP_011511381.1:p.Arg500Cys
XM_011513080.1:c.1498C>T	XP_011511382.1:p.Arg500Cys
XM_011513081.1:c.1922+15439C>T	XP_011511383.1:n.1922+15439C>T
NM_001308317.2:c.1378C>T	NP_001295246.1:p.Arg460Cys
NM_001366335.1:c.1834C>T MANE Select	NP_001353264.1:p.Arg612Cys
NM_001366336.1:c.1378C>T	NP_001353265.1:p.Arg460Cys
NM_001366337.1:c.1378C>T	NP_001353266.1:p.Arg460Cys
NM_001366338.1:c.1323-374C>T	NP_001353267.1:n.1323-374C>T
NM_001366339.1:c.1495C>T	NP_001353268.1:p.Arg499Cys
NM_022757.5:c.1711C>T	NP_073594.5:p.Arg571Cys
XM_005247711.4:c.1501C>T	XP_005247768.1:p.Arg501Cys
XM_005247715.4:c.1922+15439C>T	XP_005247772.1:n.1922+15439C>T
XM_005247716.4:c.*54C>T	XP_005247773.1:n.*54C>T
XM_006713731.3:c.1923-374C>T	XP_006713794.1:n.1923-374C>T
XM_006713733.3:c.1446-374C>T	XP_006713796.1:n.1446-374C>T
XM_011513081.2:c.1922+15439C>T	XP_011511383.1:n.1922+15439C>T
XM_017007059.2:c.901C>T	XP_016862548.1:p.Arg301Cys
XM_017007061.1:c.1322+15439C>T	XP_016862550.1:n.1322+15439C>T
XM_024453715.1:c.1498C>T	XP_024309483.1:p.Arg500Cys
XR_001740237.1:n.1853C>T