Canonical Allele Identifier: CA206991

Gene: DEPDC5

Linked Data

• ClinVar Variation Id: 210846
• ClinVar RCV Id: RCV001668361 ; RCV002317677
• dbSNP Id: rs79027628
• ExAC: 22:32257400 C / T
• gnomAD v2: 22-32257400-C-T
• gnomAD v3: 22-31861414-C-T
• gnomAD v4: 22-31861414-C-T
• MyVariant Identifiers: chr22:g.32257400C>T (hg19) ; chr22:g.31861414C>T (hg38)
• PubMed: PMID:23542697 ; PMID:27683934

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.31861414C>T , CM000684.2:g.31861414C>T	GRCh38
NC_000022.10:g.32257400C>T , CM000684.1:g.32257400C>T	GRCh37
NC_000022.9:g.30587400C>T	NCBI36
NG_034067.1:g.112464C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382112.8:c.3311C>T	ENSP00000371546.4:p.Ser1104Leu
ENST00000400246.7:c.3030+3861C>T	ENSP00000383105.3:n.3030+3861C>T
ENST00000400248.7:c.3237+3861C>T	ENSP00000383107.1:n.3237+3861C>T
ENST00000400249.7:c.3264+3861C>T	ENSP00000383108.3:n.3264+3861C>T
ENST00000433147.2:c.3227C>T	ENSP00000410544.2:p.Ser1076Leu
ENST00000448753.6:c.1367C>T	ENSP00000402173.1:p.Ser456Leu
ENST00000535622.6:c.3030+3861C>T	ENSP00000440210.1:n.3030+3861C>T
ENST00000642684.1:c.*2957+3861C>T	ENSP00000494554.1:n.*2957+3861C>T
ENST00000642696.1:c.3237+3861C>T	ENSP00000495917.1:n.3237+3861C>T
ENST00000642771.1:c.*1322C>T	ENSP00000496278.1:n.*1322C>T
ENST00000642956.1:n.51C>T
ENST00000643021.1:n.289+3861C>T
ENST00000643097.1:n.242C>T
ENST00000643395.1:c.3030+3861C>T	ENSP00000496630.1:n.3030+3861C>T
ENST00000643751.2:c.3311C>T	ENSP00000495496.1:p.Ser1104Leu
ENST00000644162.1:c.*1939C>T	ENSP00000495371.1:n.*1939C>T
ENST00000644331.1:c.3264+3861C>T	ENSP00000494406.1:n.3264+3861C>T
ENST00000644690.1:n.186+3861C>T
ENST00000645407.1:c.3288+3861C>T	ENSP00000496252.1:n.3288+3861C>T
ENST00000645494.1:c.*1295C>T	ENSP00000495338.1:n.*1295C>T
ENST00000645547.1:c.44C>T	ENSP00000496023.1:p.Ser15Leu
ENST00000645560.1:c.3077C>T	ENSP00000495544.1:p.Ser1026Leu
ENST00000645711.1:c.3284C>T	ENSP00000493489.1:p.Ser1095Leu
ENST00000645755.1:c.*2136+3861C>T	ENSP00000495873.1:n.*2136+3861C>T
ENST00000645893.1:n.2168C>T
ENST00000646135.1:n.783C>T
ENST00000646465.1:c.3077C>T	ENSP00000495655.1:p.Ser1026Leu
ENST00000646515.1:c.3311C>T	ENSP00000494700.1:p.Ser1104Leu
ENST00000646701.1:c.1786+42189C>T	ENSP00000496158.1:n.1786+42189C>T
ENST00000646830.1:n.195+3861C>T
ENST00000646969.1:c.3077C>T	ENSP00000496724.1:p.Ser1026Leu
ENST00000646998.1:c.3264+3861C>T	ENSP00000494662.1:n.3264+3861C>T
ENST00000647343.1:c.3227C>T	ENSP00000494879.1:p.Ser1076Leu
ENST00000651528.2:c.3311C>T MANE Select	ENSP00000498382.1:p.Ser1104Leu
ENST00000382111.6:c.3311C>T	ENSP00000371545.2:p.Ser1104Leu
ENST00000382112.7:c.3284C>T	ENSP00000371546.3:p.Ser1095Leu
ENST00000400246.5:c.3311C>T	ENSP00000383105.2:p.Ser1104Leu
ENST00000400248.6:c.3237+3861C>T	ENSP00000383107.1:n.3237+3861C>T
ENST00000400249.6:c.3237+3861C>T	ENSP00000383108.2:n.3237+3861C>T
ENST00000433147.1:c.1456+3861C>T
ENST00000448753.5:c.1367C>T	ENSP00000402173.1:p.Ser456Leu
ENST00000494060.1:n.138+3861C>T
ENST00000535622.5:c.3030+3861C>T	ENSP00000440210.1:n.3030+3861C>T
NM_001136029.2:c.3284C>T	NP_001129501.1:p.Ser1095Leu
NM_001242896.1:c.3311C>T	NP_001229825.1:p.Ser1104Leu
NM_001242897.1:c.3030+3861C>T	NP_001229826.1:n.3030+3861C>T
NM_014662.4:c.3237+3861C>T	NP_055477.1:n.3237+3861C>T
NR_110988.1:n.3232+3861C>T
XM_005261862.1:c.3311C>T	XP_005261919.1:p.Ser1104Leu
XM_011530557.1:c.3284C>T	XP_011528859.1:p.Ser1095Leu
XM_011530558.1:c.3264+3861C>T	XP_011528860.1:n.3264+3861C>T
XM_011530559.1:c.3237+3861C>T	XP_011528861.1:n.3237+3861C>T
XM_011530560.1:c.3077C>T	XP_011528862.1:p.Ser1026Leu
XM_011530561.1:c.3050C>T	XP_011528863.1:p.Ser1017Leu
XM_011530562.1:c.3311C>T	XP_011528864.1:p.Ser1104Leu
XM_011530563.1:c.3030+3861C>T	XP_011528865.1:n.3030+3861C>T
XM_011530564.1:c.3311C>T	XP_011528866.1:p.Ser1104Leu
XM_011530565.1:c.3311C>T	XP_011528867.1:p.Ser1104Leu
XM_011530566.1:c.3311C>T	XP_011528868.1:p.Ser1104Leu
XM_011530567.1:c.3311C>T	XP_011528869.1:p.Ser1104Leu
XM_011530568.1:c.3264+3861C>T	XP_011528870.1:n.3264+3861C>T
XM_011530569.1:c.1205C>T	XP_011528871.1:p.Ser402Leu
XR_937972.1:n.3508C>T
XR_937973.1:n.3274C>T
NM_001136029.3:c.3284C>T	NP_001129501.1:p.Ser1095Leu
NM_001242896.2:c.3311C>T	NP_001229825.1:p.Ser1104Leu
NM_001363852.1:c.3264+3861C>T	NP_001350781.1:n.3264+3861C>T
NM_001363854.1:c.3077C>T	NP_001350783.1:p.Ser1026Leu
NM_001364318.1:c.3311C>T	NP_001351247.1:p.Ser1104Leu
NM_001364319.1:c.3077C>T	NP_001351248.1:p.Ser1026Leu
NM_001364320.1:c.3264+3861C>T	NP_001351249.1:n.3264+3861C>T
NM_014662.5:c.3237+3861C>T	NP_055477.1:n.3237+3861C>T
NR_110988.2:n.3236+3861C>T
NR_146296.1:n.3417C>T
NR_157125.1:n.3227+3861C>T
NR_157126.1:n.3400C>T
NR_157128.1:n.3470+3861C>T
XM_011530557.2:c.3284C>T	XP_011528859.1:p.Ser1095Leu
XM_011530559.2:c.3237+3861C>T	XP_011528861.1:n.3237+3861C>T
XM_011530561.2:c.3050C>T	XP_011528863.1:p.Ser1017Leu
XM_011530562.2:c.3311C>T	XP_011528864.1:p.Ser1104Leu
XM_011530563.2:c.3030+3861C>T	XP_011528865.1:n.3030+3861C>T
XM_011530565.2:c.3311C>T	XP_011528867.1:p.Ser1104Leu
XM_011530568.2:c.3264+3861C>T	XP_011528870.1:n.3264+3861C>T
XM_011530569.2:c.1205C>T	XP_011528871.1:p.Ser402Leu
XM_024452305.1:c.1178C>T	XP_024308073.1:p.Ser393Leu
XR_001755389.1:n.3520C>T
XR_001755390.1:n.3520C>T
XR_937973.2:n.3286C>T
NM_001242896.3:c.3311C>T MANE Select	NP_001229825.1:p.Ser1104Leu
NM_001242897.2:c.3030+3861C>T	NP_001229826.1:n.3030+3861C>T
NM_001363852.2:c.3264+3861C>T	NP_001350781.1:n.3264+3861C>T
NM_001363854.2:c.3077C>T	NP_001350783.1:p.Ser1026Leu
NM_001369901.1:c.3227C>T	NP_001356830.1:p.Ser1076Leu
NM_001369902.1:c.3227C>T	NP_001356831.1:p.Ser1076Leu
NM_001369903.1:c.3237+3861C>T	NP_001356832.1:n.3237+3861C>T
NR_146296.2:n.3400C>T
NM_001136029.4:c.3284C>T	NP_001129501.1:p.Ser1095Leu
NM_001364318.2:c.3311C>T	NP_001351247.1:p.Ser1104Leu
NM_001364319.2:c.3077C>T	NP_001351248.1:p.Ser1026Leu
NM_001364320.2:c.3264+3861C>T	NP_001351249.1:n.3264+3861C>T
NM_014662.6:c.3237+3861C>T	NP_055477.1:n.3237+3861C>T
NR_157125.2:n.3227+3861C>T
NR_157126.2:n.3400C>T