Canonical Allele Identifier: CA10588033

Gene: DEPDC5

Linked Data

• ClinVar Variation Id: 2580197
• ClinVar RCV Id: RCV003329485 ; RCV003329484 ; RCV003329185
• dbSNP Id: rs886039255
• MyVariant Identifiers: chr22:g.32193674C>T (hg19) ; chr22:g.31797688C>T (hg38)
• PubMed: PMID:26704558 ; PMID:27683934

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.31797688C>T , CM000684.2:g.31797688C>T	GRCh38
NC_000022.10:g.32193674C>T , CM000684.1:g.32193674C>T	GRCh37
NC_000022.9:g.30523674C>T	NCBI36
NG_034067.1:g.48738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382112.8:c.856C>T	ENSP00000371546.4:p.Arg286Ter
ENST00000400242.8:c.856C>T	ENSP00000383101.3:p.Arg286Ter
ENST00000400246.7:c.856C>T	ENSP00000383105.3:p.Arg286Ter
ENST00000400248.7:c.856C>T	ENSP00000383107.1:p.Arg286Ter
ENST00000400249.7:c.856C>T	ENSP00000383108.3:p.Arg286Ter
ENST00000433147.2:c.772C>T	ENSP00000410544.2:p.Arg258Ter
ENST00000469974.6:c.755C>T	ENSP00000494860.1:n.755C>T
ENST00000535622.6:c.856C>T	ENSP00000440210.1:p.Arg286Ter
ENST00000642551.1:n.592C>T
ENST00000642684.1:c.*549C>T	ENSP00000494554.1:n.*549C>T
ENST00000642696.1:c.856C>T	ENSP00000495917.1:p.Arg286Ter
ENST00000642771.1:c.856C>T	ENSP00000496278.1:p.Arg286Ter
ENST00000642974.1:c.856C>T	ENSP00000496395.1:p.Arg286Ter
ENST00000643166.1:n.943C>T
ENST00000643395.1:c.856C>T	ENSP00000496630.1:p.Arg286Ter
ENST00000643751.2:c.856C>T	ENSP00000495496.1:p.Arg286Ter
ENST00000644162.1:c.772C>T	ENSP00000495371.1:p.Arg258Ter
ENST00000644331.1:c.856C>T	ENSP00000494406.1:p.Arg286Ter
ENST00000645407.1:c.856C>T	ENSP00000496252.1:p.Arg286Ter
ENST00000645494.1:c.856C>T	ENSP00000495338.1:p.Arg286Ter
ENST00000645560.1:c.856C>T	ENSP00000495544.1:p.Arg286Ter
ENST00000645564.1:c.856C>T	ENSP00000494484.1:p.Arg286Ter
ENST00000645693.1:c.856C>T	ENSP00000496281.1:p.Arg286Ter
ENST00000645711.1:c.856C>T	ENSP00000493489.1:p.Arg286Ter
ENST00000645755.1:c.856C>T	ENSP00000495873.1:p.Arg286Ter
ENST00000645967.1:c.*324C>T	ENSP00000495187.1:n.*324C>T
ENST00000646465.1:c.856C>T	ENSP00000495655.1:p.Arg286Ter
ENST00000646515.1:c.856C>T	ENSP00000494700.1:p.Arg286Ter
ENST00000646701.1:c.772C>T	ENSP00000496158.1:p.Arg258Ter
ENST00000646755.1:c.856C>T	ENSP00000496532.1:p.Arg286Ter
ENST00000646969.1:c.856C>T	ENSP00000496724.1:p.Arg286Ter
ENST00000646998.1:c.856C>T	ENSP00000494662.1:p.Arg286Ter
ENST00000647343.1:c.772C>T	ENSP00000494879.1:p.Arg258Ter
ENST00000647438.1:c.772C>T	ENSP00000494714.1:p.Arg258Ter
ENST00000651528.2:c.856C>T MANE Select	ENSP00000498382.1:p.Arg286Ter
ENST00000382111.6:c.856C>T	ENSP00000371545.2:p.Arg286Ter
ENST00000382112.7:c.856C>T	ENSP00000371546.3:p.Arg286Ter
ENST00000400242.7:c.856C>T	ENSP00000383101.3:p.Arg286Ter
ENST00000400246.5:c.856C>T	ENSP00000383105.2:p.Arg286Ter
ENST00000400248.6:c.856C>T	ENSP00000383107.1:p.Arg286Ter
ENST00000400249.6:c.856C>T	ENSP00000383108.2:p.Arg286Ter
ENST00000469974.5:n.515C>T
ENST00000473802.1:n.220C>T
ENST00000535622.5:c.856C>T	ENSP00000440210.1:p.Arg286Ter
NM_001007188.2:c.856C>T	NP_001007189.1:p.Arg286Ter
NM_001136029.2:c.856C>T	NP_001129501.1:p.Arg286Ter
NM_001242896.1:c.856C>T	NP_001229825.1:p.Arg286Ter
NM_001242897.1:c.856C>T	NP_001229826.1:p.Arg286Ter
NM_014662.4:c.856C>T	NP_055477.1:p.Arg286Ter
NR_110988.1:n.1058C>T
XM_005261862.1:c.856C>T	XP_005261919.1:p.Arg286Ter
XM_011530557.1:c.856C>T	XP_011528859.1:p.Arg286Ter
XM_011530558.1:c.856C>T	XP_011528860.1:p.Arg286Ter
XM_011530559.1:c.856C>T	XP_011528861.1:p.Arg286Ter
XM_011530560.1:c.856C>T	XP_011528862.1:p.Arg286Ter
XM_011530561.1:c.856C>T	XP_011528863.1:p.Arg286Ter
XM_011530562.1:c.856C>T	XP_011528864.1:p.Arg286Ter
XM_011530563.1:c.856C>T	XP_011528865.1:p.Arg286Ter
XM_011530564.1:c.856C>T	XP_011528866.1:p.Arg286Ter
XM_011530565.1:c.856C>T	XP_011528867.1:p.Arg286Ter
XM_011530566.1:c.856C>T	XP_011528868.1:p.Arg286Ter
XM_011530567.1:c.856C>T	XP_011528869.1:p.Arg286Ter
XM_011530568.1:c.856C>T	XP_011528870.1:p.Arg286Ter
XR_937972.1:n.1053C>T
XR_937973.1:n.1053C>T
NM_001007188.3:c.856C>T	NP_001007189.1:p.Arg286Ter
NM_001136029.3:c.856C>T	NP_001129501.1:p.Arg286Ter
NM_001242896.2:c.856C>T	NP_001229825.1:p.Arg286Ter
NM_001363852.1:c.856C>T	NP_001350781.1:p.Arg286Ter
NM_001363854.1:c.856C>T	NP_001350783.1:p.Arg286Ter
NM_001364318.1:c.856C>T	NP_001351247.1:p.Arg286Ter
NM_001364319.1:c.856C>T	NP_001351248.1:p.Arg286Ter
NM_001364320.1:c.856C>T	NP_001351249.1:p.Arg286Ter
NM_014662.5:c.856C>T	NP_055477.1:p.Arg286Ter
NR_110988.2:n.1062C>T
NR_146296.1:n.962C>T
NR_157125.1:n.945C>T
NR_157126.1:n.945C>T
NR_157128.1:n.1062C>T
XM_011530557.2:c.856C>T	XP_011528859.1:p.Arg286Ter
XM_011530559.2:c.856C>T	XP_011528861.1:p.Arg286Ter
XM_011530561.2:c.856C>T	XP_011528863.1:p.Arg286Ter
XM_011530562.2:c.856C>T	XP_011528864.1:p.Arg286Ter
XM_011530563.2:c.856C>T	XP_011528865.1:p.Arg286Ter
XM_011530565.2:c.856C>T	XP_011528867.1:p.Arg286Ter
XM_011530568.2:c.856C>T	XP_011528870.1:p.Arg286Ter
XM_017029113.1:c.856C>T	XP_016884602.1:p.Arg286Ter
XM_017029114.1:c.856C>T	XP_016884603.1:p.Arg286Ter
XM_017029115.1:c.856C>T	XP_016884604.1:p.Arg286Ter
XR_001755389.1:n.1065C>T
XR_001755390.1:n.1065C>T
XR_937973.2:n.1065C>T
NM_001242896.3:c.856C>T MANE Select	NP_001229825.1:p.Arg286Ter
NM_001242897.2:c.856C>T	NP_001229826.1:p.Arg286Ter
NM_001363852.2:c.856C>T	NP_001350781.1:p.Arg286Ter
NM_001363854.2:c.856C>T	NP_001350783.1:p.Arg286Ter
NM_001369901.1:c.772C>T	NP_001356830.1:p.Arg258Ter
NM_001369902.1:c.772C>T	NP_001356831.1:p.Arg258Ter
NM_001369903.1:c.856C>T	NP_001356832.1:p.Arg286Ter
NR_146296.2:n.945C>T
NM_001007188.4:c.856C>T	NP_001007189.1:p.Arg286Ter
NM_001136029.4:c.856C>T	NP_001129501.1:p.Arg286Ter
NM_001364318.2:c.856C>T	NP_001351247.1:p.Arg286Ter
NM_001364319.2:c.856C>T	NP_001351248.1:p.Arg286Ter
NM_001364320.2:c.856C>T	NP_001351249.1:p.Arg286Ter
NM_014662.6:c.856C>T	NP_055477.1:p.Arg286Ter
NR_157125.2:n.945C>T
NR_157126.2:n.945C>T