Canonical Allele Identifier: CA411293812
Community Standard Title: NM_001242896.3(DEPDC5):c.3219C>A (p.Ser1073Arg)
Gene: DEPDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.31857508C>A , CM000684.2:g.31857508C>A GRCh38
NC_000022.10:g.32253494C>A , CM000684.1:g.32253494C>A GRCh37
NC_000022.9:g.30583494C>A NCBI36
NG_034067.1:g.108558C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001242896.3:c.3219C>A MANE Select NP_001229825.1:p.Ser1073Arg
ENST00000651528.2:c.3219C>A MANE Select ENSP00000498382.1:p.Ser1073Arg
NM_001136029.2:c.3192C>A NP_001129501.1:p.Ser1064Arg
NM_001136029.3:c.3192C>A NP_001129501.1:p.Ser1064Arg
NM_001136029.4:c.3192C>A NP_001129501.1:p.Ser1064Arg
NM_001242896.1:c.3219C>A NP_001229825.1:p.Ser1073Arg
NM_001242896.2:c.3219C>A NP_001229825.1:p.Ser1073Arg
NM_001242897.1:c.2985C>A NP_001229826.1:p.Ser995Arg
NM_001242897.2:c.2985C>A NP_001229826.1:p.Ser995Arg
NM_001363852.1:c.3219C>A NP_001350781.1:p.Ser1073Arg
NM_001363852.2:c.3219C>A NP_001350781.1:p.Ser1073Arg
NM_001363854.1:c.2985C>A NP_001350783.1:p.Ser995Arg
NM_001363854.2:c.2985C>A NP_001350783.1:p.Ser995Arg
NM_001364318.1:c.3219C>A NP_001351247.1:p.Ser1073Arg
NM_001364318.2:c.3219C>A NP_001351247.1:p.Ser1073Arg
NM_001364319.1:c.2985C>A NP_001351248.1:p.Ser995Arg
NM_001364319.2:c.2985C>A NP_001351248.1:p.Ser995Arg
NM_001364320.1:c.3219C>A NP_001351249.1:p.Ser1073Arg
NM_001364320.2:c.3219C>A NP_001351249.1:p.Ser1073Arg
NM_001369901.1:c.3135C>A NP_001356830.1:p.Ser1045Arg
NM_001369902.1:c.3135C>A NP_001356831.1:p.Ser1045Arg
NM_001369903.1:c.3192C>A NP_001356832.1:p.Ser1064Arg
NM_014662.4:c.3192C>A NP_055477.1:p.Ser1064Arg
NM_014662.5:c.3192C>A NP_055477.1:p.Ser1064Arg
NM_014662.6:c.3192C>A NP_055477.1:p.Ser1064Arg
NR_110988.1:n.3187C>A
NR_110988.2:n.3191C>A
NR_146296.1:n.3325C>A
NR_146296.2:n.3308C>A
NR_157125.1:n.3182C>A
NR_157125.2:n.3182C>A
NR_157126.1:n.3308C>A
NR_157126.2:n.3308C>A
NR_157128.1:n.3425C>A
ENST00000382111.6:c.3219C>A ENSP00000371545.2:p.Ser1073Arg
ENST00000382112.7:c.3192C>A ENSP00000371546.3:p.Ser1064Arg
ENST00000382112.8:c.3219C>A ENSP00000371546.4:p.Ser1073Arg
ENST00000400246.5:c.3219C>A ENSP00000383105.2:p.Ser1073Arg
ENST00000400246.7:c.2985C>A ENSP00000383105.3:p.Ser995Arg
ENST00000400248.6:c.3192C>A ENSP00000383107.1:p.Ser1064Arg
ENST00000400248.7:c.3192C>A ENSP00000383107.1:p.Ser1064Arg
ENST00000400249.6:c.3192C>A ENSP00000383108.2:p.Ser1064Arg
ENST00000400249.7:c.3219C>A ENSP00000383108.3:p.Ser1073Arg
ENST00000433147.1:c.1411C>A
ENST00000433147.2:c.3135C>A ENSP00000410544.2:p.Ser1045Arg
ENST00000448753.5:c.1275C>A ENSP00000402173.1:p.Ser425Arg
ENST00000448753.6:c.1275C>A ENSP00000402173.1:p.Ser425Arg
ENST00000494060.1:n.93C>A
ENST00000535622.5:c.2985C>A ENSP00000440210.1:p.Ser995Arg
ENST00000535622.6:c.2985C>A ENSP00000440210.1:p.Ser995Arg
ENST00000642551.1:n.2955C>A
ENST00000642684.1:c.*2912C>A ENSP00000494554.1:n.*2912C>A
ENST00000642696.1:c.3192C>A ENSP00000495917.1:p.Ser1064Arg
ENST00000642771.1:c.*1230C>A ENSP00000496278.1:n.*1230C>A
ENST00000643021.1:n.244C>A
ENST00000643097.1:n.150C>A
ENST00000643395.1:c.2985C>A ENSP00000496630.1:p.Ser995Arg
ENST00000643751.2:c.3219C>A ENSP00000495496.1:p.Ser1073Arg
ENST00000644162.1:c.*1847C>A ENSP00000495371.1:n.*1847C>A
ENST00000644331.1:c.3219C>A ENSP00000494406.1:p.Ser1073Arg
ENST00000644690.1:n.141C>A
ENST00000645407.1:c.3243C>A ENSP00000496252.1:p.Ser1081Arg
ENST00000645494.1:c.*1203C>A ENSP00000495338.1:n.*1203C>A
ENST00000645560.1:c.2985C>A ENSP00000495544.1:p.Ser995Arg
ENST00000645711.1:c.3192C>A ENSP00000493489.1:p.Ser1064Arg
ENST00000645755.1:c.*2091C>A ENSP00000495873.1:n.*2091C>A
ENST00000645893.1:n.2076C>A
ENST00000646135.1:n.691C>A
ENST00000646465.1:c.2985C>A ENSP00000495655.1:p.Ser995Arg
ENST00000646515.1:c.3219C>A ENSP00000494700.1:p.Ser1073Arg
ENST00000646701.1:c.1786+38283C>A ENSP00000496158.1:n.1786+38283C>A
ENST00000646830.1:n.150C>A
ENST00000646969.1:c.2985C>A ENSP00000496724.1:p.Ser995Arg
ENST00000646998.1:c.3219C>A ENSP00000494662.1:p.Ser1073Arg
ENST00000647343.1:c.3135C>A ENSP00000494879.1:p.Ser1045Arg
XM_005261862.1:c.3219C>A XP_005261919.1:p.Ser1073Arg
XM_011530557.1:c.3192C>A XP_011528859.1:p.Ser1064Arg
XM_011530557.2:c.3192C>A XP_011528859.1:p.Ser1064Arg
XM_011530558.1:c.3219C>A XP_011528860.1:p.Ser1073Arg
XM_011530559.1:c.3192C>A XP_011528861.1:p.Ser1064Arg
XM_011530559.2:c.3192C>A XP_011528861.1:p.Ser1064Arg
XM_011530560.1:c.2985C>A XP_011528862.1:p.Ser995Arg
XM_011530561.1:c.2958C>A XP_011528863.1:p.Ser986Arg
XM_011530561.2:c.2958C>A XP_011528863.1:p.Ser986Arg
XM_011530562.1:c.3219C>A XP_011528864.1:p.Ser1073Arg
XM_011530562.2:c.3219C>A XP_011528864.1:p.Ser1073Arg
XM_011530563.1:c.2985C>A XP_011528865.1:p.Ser995Arg
XM_011530563.2:c.2985C>A XP_011528865.1:p.Ser995Arg
XM_011530564.1:c.3219C>A XP_011528866.1:p.Ser1073Arg
XM_011530565.1:c.3219C>A XP_011528867.1:p.Ser1073Arg
XM_011530565.2:c.3219C>A XP_011528867.1:p.Ser1073Arg
XM_011530566.1:c.3219C>A XP_011528868.1:p.Ser1073Arg
XM_011530567.1:c.3219C>A XP_011528869.1:p.Ser1073Arg
XM_011530568.1:c.3219C>A XP_011528870.1:p.Ser1073Arg
XM_011530568.2:c.3219C>A XP_011528870.1:p.Ser1073Arg
XM_011530569.1:c.1113C>A XP_011528871.1:p.Ser371Arg
XM_011530569.2:c.1113C>A XP_011528871.1:p.Ser371Arg
XM_024452305.1:c.1086C>A XP_024308073.1:p.Ser362Arg
XR_001755389.1:n.3428C>A
XR_001755390.1:n.3428C>A
XR_937972.1:n.3416C>A
XR_937973.1:n.3182C>A
XR_937973.2:n.3194C>A