Canonical Allele Identifier: CA10196909

Gene: DEPDC5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.31857506A>C , CM000684.2:g.31857506A>C	GRCh38
NC_000022.10:g.32253492A>C , CM000684.1:g.32253492A>C	GRCh37
NC_000022.9:g.30583492A>C	NCBI36
NG_034067.1:g.108556A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001242896.3:c.3217A>C MANE Select	NP_001229825.1:p.Ser1073Arg
ENST00000651528.2:c.3217A>C MANE Select	ENSP00000498382.1:p.Ser1073Arg
NM_001136029.2:c.3190A>C	NP_001129501.1:p.Ser1064Arg
NM_001136029.3:c.3190A>C	NP_001129501.1:p.Ser1064Arg
NM_001136029.4:c.3190A>C	NP_001129501.1:p.Ser1064Arg
NM_001242896.1:c.3217A>C	NP_001229825.1:p.Ser1073Arg
NM_001242896.2:c.3217A>C	NP_001229825.1:p.Ser1073Arg
NM_001242897.1:c.2983A>C	NP_001229826.1:p.Ser995Arg
NM_001242897.2:c.2983A>C	NP_001229826.1:p.Ser995Arg
NM_001363852.1:c.3217A>C	NP_001350781.1:p.Ser1073Arg
NM_001363852.2:c.3217A>C	NP_001350781.1:p.Ser1073Arg
NM_001363854.1:c.2983A>C	NP_001350783.1:p.Ser995Arg
NM_001363854.2:c.2983A>C	NP_001350783.1:p.Ser995Arg
NM_001364318.1:c.3217A>C	NP_001351247.1:p.Ser1073Arg
NM_001364318.2:c.3217A>C	NP_001351247.1:p.Ser1073Arg
NM_001364319.1:c.2983A>C	NP_001351248.1:p.Ser995Arg
NM_001364319.2:c.2983A>C	NP_001351248.1:p.Ser995Arg
NM_001364320.1:c.3217A>C	NP_001351249.1:p.Ser1073Arg
NM_001364320.2:c.3217A>C	NP_001351249.1:p.Ser1073Arg
NM_001369901.1:c.3133A>C	NP_001356830.1:p.Ser1045Arg
NM_001369902.1:c.3133A>C	NP_001356831.1:p.Ser1045Arg
NM_001369903.1:c.3190A>C	NP_001356832.1:p.Ser1064Arg
NM_014662.4:c.3190A>C	NP_055477.1:p.Ser1064Arg
NM_014662.5:c.3190A>C	NP_055477.1:p.Ser1064Arg
NM_014662.6:c.3190A>C	NP_055477.1:p.Ser1064Arg
NR_110988.1:n.3185A>C
NR_110988.2:n.3189A>C
NR_146296.1:n.3323A>C
NR_146296.2:n.3306A>C
NR_157125.1:n.3180A>C
NR_157125.2:n.3180A>C
NR_157126.1:n.3306A>C
NR_157126.2:n.3306A>C
NR_157128.1:n.3423A>C
ENST00000382111.6:c.3217A>C	ENSP00000371545.2:p.Ser1073Arg
ENST00000382112.7:c.3190A>C	ENSP00000371546.3:p.Ser1064Arg
ENST00000382112.8:c.3217A>C	ENSP00000371546.4:p.Ser1073Arg
ENST00000400246.5:c.3217A>C	ENSP00000383105.2:p.Ser1073Arg
ENST00000400246.7:c.2983A>C	ENSP00000383105.3:p.Ser995Arg
ENST00000400248.6:c.3190A>C	ENSP00000383107.1:p.Ser1064Arg
ENST00000400248.7:c.3190A>C	ENSP00000383107.1:p.Ser1064Arg
ENST00000400249.6:c.3190A>C	ENSP00000383108.2:p.Ser1064Arg
ENST00000400249.7:c.3217A>C	ENSP00000383108.3:p.Ser1073Arg
ENST00000433147.1:c.1409A>C
ENST00000433147.2:c.3133A>C	ENSP00000410544.2:p.Ser1045Arg
ENST00000448753.5:c.1273A>C	ENSP00000402173.1:p.Ser425Arg
ENST00000448753.6:c.1273A>C	ENSP00000402173.1:p.Ser425Arg
ENST00000494060.1:n.91A>C
ENST00000535622.5:c.2983A>C	ENSP00000440210.1:p.Ser995Arg
ENST00000535622.6:c.2983A>C	ENSP00000440210.1:p.Ser995Arg
ENST00000642551.1:n.2953A>C
ENST00000642684.1:c.*2910A>C	ENSP00000494554.1:n.*2910A>C
ENST00000642696.1:c.3190A>C	ENSP00000495917.1:p.Ser1064Arg
ENST00000642771.1:c.*1228A>C	ENSP00000496278.1:n.*1228A>C
ENST00000643021.1:n.242A>C
ENST00000643097.1:n.148A>C
ENST00000643395.1:c.2983A>C	ENSP00000496630.1:p.Ser995Arg
ENST00000643751.2:c.3217A>C	ENSP00000495496.1:p.Ser1073Arg
ENST00000644162.1:c.*1845A>C	ENSP00000495371.1:n.*1845A>C
ENST00000644331.1:c.3217A>C	ENSP00000494406.1:p.Ser1073Arg
ENST00000644690.1:n.139A>C
ENST00000645407.1:c.3241A>C	ENSP00000496252.1:p.Ser1081Arg
ENST00000645494.1:c.*1201A>C	ENSP00000495338.1:n.*1201A>C
ENST00000645560.1:c.2983A>C	ENSP00000495544.1:p.Ser995Arg
ENST00000645711.1:c.3190A>C	ENSP00000493489.1:p.Ser1064Arg
ENST00000645755.1:c.*2089A>C	ENSP00000495873.1:n.*2089A>C
ENST00000645893.1:n.2074A>C
ENST00000646135.1:n.689A>C
ENST00000646465.1:c.2983A>C	ENSP00000495655.1:p.Ser995Arg
ENST00000646515.1:c.3217A>C	ENSP00000494700.1:p.Ser1073Arg
ENST00000646701.1:c.1786+38281A>C	ENSP00000496158.1:n.1786+38281A>C
ENST00000646830.1:n.148A>C
ENST00000646969.1:c.2983A>C	ENSP00000496724.1:p.Ser995Arg
ENST00000646998.1:c.3217A>C	ENSP00000494662.1:p.Ser1073Arg
ENST00000647343.1:c.3133A>C	ENSP00000494879.1:p.Ser1045Arg
XM_005261862.1:c.3217A>C	XP_005261919.1:p.Ser1073Arg
XM_011530557.1:c.3190A>C	XP_011528859.1:p.Ser1064Arg
XM_011530557.2:c.3190A>C	XP_011528859.1:p.Ser1064Arg
XM_011530558.1:c.3217A>C	XP_011528860.1:p.Ser1073Arg
XM_011530559.1:c.3190A>C	XP_011528861.1:p.Ser1064Arg
XM_011530559.2:c.3190A>C	XP_011528861.1:p.Ser1064Arg
XM_011530560.1:c.2983A>C	XP_011528862.1:p.Ser995Arg
XM_011530561.1:c.2956A>C	XP_011528863.1:p.Ser986Arg
XM_011530561.2:c.2956A>C	XP_011528863.1:p.Ser986Arg
XM_011530562.1:c.3217A>C	XP_011528864.1:p.Ser1073Arg
XM_011530562.2:c.3217A>C	XP_011528864.1:p.Ser1073Arg
XM_011530563.1:c.2983A>C	XP_011528865.1:p.Ser995Arg
XM_011530563.2:c.2983A>C	XP_011528865.1:p.Ser995Arg
XM_011530564.1:c.3217A>C	XP_011528866.1:p.Ser1073Arg
XM_011530565.1:c.3217A>C	XP_011528867.1:p.Ser1073Arg
XM_011530565.2:c.3217A>C	XP_011528867.1:p.Ser1073Arg
XM_011530566.1:c.3217A>C	XP_011528868.1:p.Ser1073Arg
XM_011530567.1:c.3217A>C	XP_011528869.1:p.Ser1073Arg
XM_011530568.1:c.3217A>C	XP_011528870.1:p.Ser1073Arg
XM_011530568.2:c.3217A>C	XP_011528870.1:p.Ser1073Arg
XM_011530569.1:c.1111A>C	XP_011528871.1:p.Ser371Arg
XM_011530569.2:c.1111A>C	XP_011528871.1:p.Ser371Arg
XM_024452305.1:c.1084A>C	XP_024308073.1:p.Ser362Arg
XR_001755389.1:n.3426A>C
XR_001755390.1:n.3426A>C
XR_937972.1:n.3414A>C
XR_937973.1:n.3180A>C
XR_937973.2:n.3192A>C