Canonical Allele Identifier: CA10196668

Gene: DEPDC5

Linked Data

• ClinVar Variation Id: 414452
• ClinVar RCV Id: RCV000463725 ; RCV001712432 ; RCV002311787
• dbSNP Id: rs16989537
• ExAC: 22:32233028 C / G
• gnomAD v2: 22-32233028-C-G
• gnomAD v3: 22-31837042-C-G
• gnomAD v4: 22-31837042-C-G
• MyVariant Identifiers: chr22:g.32233028C>G (hg19) ; chr22:g.31837042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.31837042C>G , CM000684.2:g.31837042C>G	GRCh38
NC_000022.10:g.32233028C>G , CM000684.1:g.32233028C>G	GRCh37
NC_000022.9:g.30563028C>G	NCBI36
NG_034067.1:g.88092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382112.8:c.2241C>G	ENSP00000371546.4:p.Leu747=
ENST00000400246.7:c.2007C>G	ENSP00000383105.3:p.Leu669=
ENST00000400248.7:c.2214C>G	ENSP00000383107.1:p.Leu738=
ENST00000400249.7:c.2241C>G	ENSP00000383108.3:p.Leu747=
ENST00000433147.2:c.2157C>G	ENSP00000410544.2:p.Leu719=
ENST00000448753.6:c.297C>G	ENSP00000402173.1:p.Leu99=
ENST00000535622.6:c.2007C>G	ENSP00000440210.1:p.Leu669=
ENST00000642551.1:n.1977C>G
ENST00000642684.1:c.*1934C>G	ENSP00000494554.1:n.*1934C>G
ENST00000642696.1:c.2214C>G	ENSP00000495917.1:p.Leu738=
ENST00000642771.1:c.*252C>G	ENSP00000496278.1:n.*252C>G
ENST00000642974.1:c.2241C>G	ENSP00000496395.1:p.Leu747=
ENST00000643395.1:c.2007C>G	ENSP00000496630.1:p.Leu669=
ENST00000643751.2:c.2241C>G	ENSP00000495496.1:p.Leu747=
ENST00000644162.1:c.*869C>G	ENSP00000495371.1:n.*869C>G
ENST00000644331.1:c.2241C>G	ENSP00000494406.1:p.Leu747=
ENST00000645407.1:c.2265C>G	ENSP00000496252.1:p.Leu755=
ENST00000645494.1:c.*225C>G	ENSP00000495338.1:n.*225C>G
ENST00000645560.1:c.2007C>G	ENSP00000495544.1:p.Leu669=
ENST00000645564.1:c.2148C>G	ENSP00000494484.1:p.Leu716=
ENST00000645693.1:c.2007C>G	ENSP00000496281.1:p.Leu669=
ENST00000645711.1:c.2214C>G	ENSP00000493489.1:p.Leu738=
ENST00000645755.1:c.*1165-52C>G	ENSP00000495873.1:n.*1165-52C>G
ENST00000645893.1:n.1098C>G
ENST00000646465.1:c.2007C>G	ENSP00000495655.1:p.Leu669=
ENST00000646515.1:c.2241C>G	ENSP00000494700.1:p.Leu747=
ENST00000646701.1:c.1786+17817C>G	ENSP00000496158.1:n.1786+17817C>G
ENST00000646969.1:c.2007C>G	ENSP00000496724.1:p.Leu669=
ENST00000646998.1:c.2241C>G	ENSP00000494662.1:p.Leu747=
ENST00000647343.1:c.2157C>G	ENSP00000494879.1:p.Leu719=
ENST00000651528.2:c.2241C>G MANE Select	ENSP00000498382.1:p.Leu747=
ENST00000382111.6:c.2241C>G	ENSP00000371545.2:p.Leu747=
ENST00000382112.7:c.2214C>G	ENSP00000371546.3:p.Leu738=
ENST00000400246.5:c.2241C>G	ENSP00000383105.2:p.Leu747=
ENST00000400248.6:c.2214C>G	ENSP00000383107.1:p.Leu738=
ENST00000400249.6:c.2214C>G	ENSP00000383108.2:p.Leu738=
ENST00000433147.1:c.433C>G
ENST00000448753.5:c.297C>G	ENSP00000402173.1:p.Leu99=
ENST00000462414.1:n.133-52C>G
ENST00000471914.5:n.159C>G
ENST00000490731.1:n.195C>G
ENST00000494065.2:n.134C>G
ENST00000535622.5:c.2007C>G	ENSP00000440210.1:p.Leu669=
NM_001136029.2:c.2214C>G	NP_001129501.1:p.Leu738=
NM_001242896.1:c.2241C>G	NP_001229825.1:p.Leu747=
NM_001242897.1:c.2007C>G	NP_001229826.1:p.Leu669=
NM_014662.4:c.2214C>G	NP_055477.1:p.Leu738=
NR_110988.1:n.2209C>G
XM_005261862.1:c.2241C>G	XP_005261919.1:p.Leu747=
XM_011530557.1:c.2214C>G	XP_011528859.1:p.Leu738=
XM_011530558.1:c.2241C>G	XP_011528860.1:p.Leu747=
XM_011530559.1:c.2214C>G	XP_011528861.1:p.Leu738=
XM_011530560.1:c.2007C>G	XP_011528862.1:p.Leu669=
XM_011530561.1:c.1980C>G	XP_011528863.1:p.Leu660=
XM_011530562.1:c.2241C>G	XP_011528864.1:p.Leu747=
XM_011530563.1:c.2007C>G	XP_011528865.1:p.Leu669=
XM_011530564.1:c.2241C>G	XP_011528866.1:p.Leu747=
XM_011530565.1:c.2241C>G	XP_011528867.1:p.Leu747=
XM_011530566.1:c.2241C>G	XP_011528868.1:p.Leu747=
XM_011530567.1:c.2241C>G	XP_011528869.1:p.Leu747=
XM_011530568.1:c.2241C>G	XP_011528870.1:p.Leu747=
XM_011530569.1:c.135C>G	XP_011528871.1:p.Leu45=
XR_937972.1:n.2438C>G
XR_937973.1:n.2204C>G
NM_001136029.3:c.2214C>G	NP_001129501.1:p.Leu738=
NM_001242896.2:c.2241C>G	NP_001229825.1:p.Leu747=
NM_001363852.1:c.2241C>G	NP_001350781.1:p.Leu747=
NM_001363854.1:c.2007C>G	NP_001350783.1:p.Leu669=
NM_001364318.1:c.2241C>G	NP_001351247.1:p.Leu747=
NM_001364319.1:c.2007C>G	NP_001351248.1:p.Leu669=
NM_001364320.1:c.2241C>G	NP_001351249.1:p.Leu747=
NM_014662.5:c.2214C>G	NP_055477.1:p.Leu738=
NR_110988.2:n.2213C>G
NR_146296.1:n.2347C>G
NR_157125.1:n.2256-52C>G
NR_157126.1:n.2330C>G
NR_157128.1:n.2447C>G
XM_011530557.2:c.2214C>G	XP_011528859.1:p.Leu738=
XM_011530559.2:c.2214C>G	XP_011528861.1:p.Leu738=
XM_011530561.2:c.1980C>G	XP_011528863.1:p.Leu660=
XM_011530562.2:c.2241C>G	XP_011528864.1:p.Leu747=
XM_011530563.2:c.2007C>G	XP_011528865.1:p.Leu669=
XM_011530565.2:c.2241C>G	XP_011528867.1:p.Leu747=
XM_011530568.2:c.2241C>G	XP_011528870.1:p.Leu747=
XM_011530569.2:c.135C>G	XP_011528871.1:p.Leu45=
XM_017029113.1:c.2171-52C>G	XP_016884602.1:n.2171-52C>G
XM_017029115.1:c.1937-52C>G	XP_016884604.1:n.1937-52C>G
XM_024452305.1:c.108C>G	XP_024308073.1:p.Leu36=
XR_001755389.1:n.2450C>G
XR_001755390.1:n.2450C>G
XR_937973.2:n.2216C>G
NM_001242896.3:c.2241C>G MANE Select	NP_001229825.1:p.Leu747=
NM_001242897.2:c.2007C>G	NP_001229826.1:p.Leu669=
NM_001363852.2:c.2241C>G	NP_001350781.1:p.Leu747=
NM_001363854.2:c.2007C>G	NP_001350783.1:p.Leu669=
NM_001369901.1:c.2157C>G	NP_001356830.1:p.Leu719=
NM_001369902.1:c.2157C>G	NP_001356831.1:p.Leu719=
NM_001369903.1:c.2214C>G	NP_001356832.1:p.Leu738=
NR_146296.2:n.2330C>G
NM_001136029.4:c.2214C>G	NP_001129501.1:p.Leu738=
NM_001364318.2:c.2241C>G	NP_001351247.1:p.Leu747=
NM_001364319.2:c.2007C>G	NP_001351248.1:p.Leu669=
NM_001364320.2:c.2241C>G	NP_001351249.1:p.Leu747=
NM_014662.6:c.2214C>G	NP_055477.1:p.Leu738=
NR_157125.2:n.2256-52C>G
NR_157126.2:n.2330C>G