Canonical Allele Identifier: CA411294606

Gene: DEPDC5

Linked Data

• MyVariant Identifiers: chr22:g.32257378G>T (hg19) ; chr22:g.31861392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.31861392G>T , CM000684.2:g.31861392G>T	GRCh38
NC_000022.10:g.32257378G>T , CM000684.1:g.32257378G>T	GRCh37
NC_000022.9:g.30587378G>T	NCBI36
NG_034067.1:g.112442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382112.8:c.3289G>T	ENSP00000371546.4:p.Val1097Phe
ENST00000400246.7:c.3030+3839G>T	ENSP00000383105.3:n.3030+3839G>T
ENST00000400248.7:c.3237+3839G>T	ENSP00000383107.1:n.3237+3839G>T
ENST00000400249.7:c.3264+3839G>T	ENSP00000383108.3:n.3264+3839G>T
ENST00000433147.2:c.3205G>T	ENSP00000410544.2:p.Val1069Phe
ENST00000448753.6:c.1345G>T	ENSP00000402173.1:p.Val449Phe
ENST00000535622.6:c.3030+3839G>T	ENSP00000440210.1:n.3030+3839G>T
ENST00000642684.1:c.*2957+3839G>T	ENSP00000494554.1:n.*2957+3839G>T
ENST00000642696.1:c.3237+3839G>T	ENSP00000495917.1:n.3237+3839G>T
ENST00000642771.1:c.*1300G>T	ENSP00000496278.1:n.*1300G>T
ENST00000642956.1:n.29G>T
ENST00000643021.1:n.289+3839G>T
ENST00000643097.1:n.220G>T
ENST00000643395.1:c.3030+3839G>T	ENSP00000496630.1:n.3030+3839G>T
ENST00000643751.2:c.3289G>T	ENSP00000495496.1:p.Val1097Phe
ENST00000644162.1:c.*1917G>T	ENSP00000495371.1:n.*1917G>T
ENST00000644331.1:c.3264+3839G>T	ENSP00000494406.1:n.3264+3839G>T
ENST00000644690.1:n.186+3839G>T
ENST00000645407.1:c.3288+3839G>T	ENSP00000496252.1:n.3288+3839G>T
ENST00000645494.1:c.*1273G>T	ENSP00000495338.1:n.*1273G>T
ENST00000645547.1:c.22G>T	ENSP00000496023.1:p.Val8Phe
ENST00000645560.1:c.3055G>T	ENSP00000495544.1:p.Val1019Phe
ENST00000645711.1:c.3262G>T	ENSP00000493489.1:p.Val1088Phe
ENST00000645755.1:c.*2136+3839G>T	ENSP00000495873.1:n.*2136+3839G>T
ENST00000645893.1:n.2146G>T
ENST00000646135.1:n.761G>T
ENST00000646465.1:c.3055G>T	ENSP00000495655.1:p.Val1019Phe
ENST00000646515.1:c.3289G>T	ENSP00000494700.1:p.Val1097Phe
ENST00000646701.1:c.1786+42167G>T	ENSP00000496158.1:n.1786+42167G>T
ENST00000646830.1:n.195+3839G>T
ENST00000646969.1:c.3055G>T	ENSP00000496724.1:p.Val1019Phe
ENST00000646998.1:c.3264+3839G>T	ENSP00000494662.1:n.3264+3839G>T
ENST00000647343.1:c.3205G>T	ENSP00000494879.1:p.Val1069Phe
ENST00000651528.2:c.3289G>T MANE Select	ENSP00000498382.1:p.Val1097Phe
ENST00000382111.6:c.3289G>T	ENSP00000371545.2:p.Val1097Phe
ENST00000382112.7:c.3262G>T	ENSP00000371546.3:p.Val1088Phe
ENST00000400246.5:c.3289G>T	ENSP00000383105.2:p.Val1097Phe
ENST00000400248.6:c.3237+3839G>T	ENSP00000383107.1:n.3237+3839G>T
ENST00000400249.6:c.3237+3839G>T	ENSP00000383108.2:n.3237+3839G>T
ENST00000433147.1:c.1456+3839G>T
ENST00000448753.5:c.1345G>T	ENSP00000402173.1:p.Val449Phe
ENST00000494060.1:n.138+3839G>T
ENST00000535622.5:c.3030+3839G>T	ENSP00000440210.1:n.3030+3839G>T
NM_001136029.2:c.3262G>T	NP_001129501.1:p.Val1088Phe
NM_001242896.1:c.3289G>T	NP_001229825.1:p.Val1097Phe
NM_001242897.1:c.3030+3839G>T	NP_001229826.1:n.3030+3839G>T
NM_014662.4:c.3237+3839G>T	NP_055477.1:n.3237+3839G>T
NR_110988.1:n.3232+3839G>T
XM_005261862.1:c.3289G>T	XP_005261919.1:p.Val1097Phe
XM_011530557.1:c.3262G>T	XP_011528859.1:p.Val1088Phe
XM_011530558.1:c.3264+3839G>T	XP_011528860.1:n.3264+3839G>T
XM_011530559.1:c.3237+3839G>T	XP_011528861.1:n.3237+3839G>T
XM_011530560.1:c.3055G>T	XP_011528862.1:p.Val1019Phe
XM_011530561.1:c.3028G>T	XP_011528863.1:p.Val1010Phe
XM_011530562.1:c.3289G>T	XP_011528864.1:p.Val1097Phe
XM_011530563.1:c.3030+3839G>T	XP_011528865.1:n.3030+3839G>T
XM_011530564.1:c.3289G>T	XP_011528866.1:p.Val1097Phe
XM_011530565.1:c.3289G>T	XP_011528867.1:p.Val1097Phe
XM_011530566.1:c.3289G>T	XP_011528868.1:p.Val1097Phe
XM_011530567.1:c.3289G>T	XP_011528869.1:p.Val1097Phe
XM_011530568.1:c.3264+3839G>T	XP_011528870.1:n.3264+3839G>T
XM_011530569.1:c.1183G>T	XP_011528871.1:p.Val395Phe
XR_937972.1:n.3486G>T
XR_937973.1:n.3252G>T
NM_001136029.3:c.3262G>T	NP_001129501.1:p.Val1088Phe
NM_001242896.2:c.3289G>T	NP_001229825.1:p.Val1097Phe
NM_001363852.1:c.3264+3839G>T	NP_001350781.1:n.3264+3839G>T
NM_001363854.1:c.3055G>T	NP_001350783.1:p.Val1019Phe
NM_001364318.1:c.3289G>T	NP_001351247.1:p.Val1097Phe
NM_001364319.1:c.3055G>T	NP_001351248.1:p.Val1019Phe
NM_001364320.1:c.3264+3839G>T	NP_001351249.1:n.3264+3839G>T
NM_014662.5:c.3237+3839G>T	NP_055477.1:n.3237+3839G>T
NR_110988.2:n.3236+3839G>T
NR_146296.1:n.3395G>T
NR_157125.1:n.3227+3839G>T
NR_157126.1:n.3378G>T
NR_157128.1:n.3470+3839G>T
XM_011530557.2:c.3262G>T	XP_011528859.1:p.Val1088Phe
XM_011530559.2:c.3237+3839G>T	XP_011528861.1:n.3237+3839G>T
XM_011530561.2:c.3028G>T	XP_011528863.1:p.Val1010Phe
XM_011530562.2:c.3289G>T	XP_011528864.1:p.Val1097Phe
XM_011530563.2:c.3030+3839G>T	XP_011528865.1:n.3030+3839G>T
XM_011530565.2:c.3289G>T	XP_011528867.1:p.Val1097Phe
XM_011530568.2:c.3264+3839G>T	XP_011528870.1:n.3264+3839G>T
XM_011530569.2:c.1183G>T	XP_011528871.1:p.Val395Phe
XM_024452305.1:c.1156G>T	XP_024308073.1:p.Val386Phe
XR_001755389.1:n.3498G>T
XR_001755390.1:n.3498G>T
XR_937973.2:n.3264G>T
NM_001242896.3:c.3289G>T MANE Select	NP_001229825.1:p.Val1097Phe
NM_001242897.2:c.3030+3839G>T	NP_001229826.1:n.3030+3839G>T
NM_001363852.2:c.3264+3839G>T	NP_001350781.1:n.3264+3839G>T
NM_001363854.2:c.3055G>T	NP_001350783.1:p.Val1019Phe
NM_001369901.1:c.3205G>T	NP_001356830.1:p.Val1069Phe
NM_001369902.1:c.3205G>T	NP_001356831.1:p.Val1069Phe
NM_001369903.1:c.3237+3839G>T	NP_001356832.1:n.3237+3839G>T
NR_146296.2:n.3378G>T
NM_001136029.4:c.3262G>T	NP_001129501.1:p.Val1088Phe
NM_001364318.2:c.3289G>T	NP_001351247.1:p.Val1097Phe
NM_001364319.2:c.3055G>T	NP_001351248.1:p.Val1019Phe
NM_001364320.2:c.3264+3839G>T	NP_001351249.1:n.3264+3839G>T
NM_014662.6:c.3237+3839G>T	NP_055477.1:n.3237+3839G>T
NR_157125.2:n.3227+3839G>T
NR_157126.2:n.3378G>T