Canonical Allele Identifier: CA379598039

Gene: DENND5A

Linked Data

• COSMIC: COSM5886712
• MyVariant Identifiers: chr11:g.9163611C>T (hg19) ; chr11:g.9142064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142064C>T , CM000673.2:g.9142064C>T	GRCh38
NC_000011.9:g.9163611C>T , CM000673.1:g.9163611C>T	GRCh37
NC_000011.8:g.9120187C>T	NCBI36
NG_053019.1:g.128272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3556G>A MANE Select	ENSP00000328524.3:p.Val1186Ile
ENST00000525784.6:n.1418G>A
ENST00000530780.2:c.*3382G>A	ENSP00000433925.1:n.*3382G>A
ENST00000531747.2:n.3227G>A
ENST00000679446.1:n.3477G>A
ENST00000679458.1:n.4957G>A
ENST00000679460.1:n.4618G>A
ENST00000679568.1:c.3556G>A	ENSP00000505860.1:p.Val1186Ile
ENST00000679745.1:n.4061G>A
ENST00000679773.1:n.2717G>A
ENST00000679926.1:n.4858G>A
ENST00000679999.1:c.*613G>A	ENSP00000505198.1:n.*613G>A
ENST00000680252.1:c.3223G>A
ENST00000680294.1:c.3349G>A	ENSP00000506113.1:p.Val1117Ile
ENST00000680358.1:n.2855G>A
ENST00000680470.1:c.*1337G>A	ENSP00000505975.1:n.*1337G>A
ENST00000680554.1:c.*89G>A	ENSP00000505621.1:n.*89G>A
ENST00000680576.1:n.5032G>A
ENST00000680599.1:n.3597G>A
ENST00000680742.1:c.*89G>A	ENSP00000505206.1:n.*89G>A
ENST00000680791.1:n.2440G>A
ENST00000680885.1:n.5258G>A
ENST00000681158.1:c.3140G>A
ENST00000681203.1:c.3484G>A	ENSP00000506456.1:p.Val1162Ile
ENST00000681371.1:n.3428G>A
ENST00000681425.1:n.4034G>A
ENST00000681639.1:n.1835G>A
ENST00000328194.7:c.3556G>A	ENSP00000328524.3:p.Val1186Ile
ENST00000525784.5:c.492G>A
ENST00000527700.5:n.3118G>A
ENST00000528725.5:c.252G>A
ENST00000529977.5:n.1457G>A
ENST00000530044.5:c.3556G>A	ENSP00000435866.1:p.Val1186Ile
ENST00000531747.1:c.792G>A
ENST00000533737.5:c.219G>A
NM_001243254.1:c.3556G>A	NP_001230183.1:p.Val1186Ile
NM_015213.3:c.3556G>A	NP_056028.2:p.Val1186Ile
XM_005252832.1:c.3556G>A	XP_005252889.1:p.Val1186Ile
XM_011519952.1:c.3556G>A	XP_011518254.1:p.Val1186Ile
XM_011519953.1:c.1654G>A	XP_011518255.1:p.Val552Ile
XR_242782.2:n.3738G>A
XR_930851.1:n.3738G>A
NM_001348749.1:c.3484G>A	NP_001335678.1:p.Val1162Ile
NM_001348750.1:c.3268G>A	NP_001335679.1:p.Val1090Ile
NR_145966.2:n.3730G>A
NM_015213.4:c.3556G>A MANE Select	NP_056028.2:p.Val1186Ile
NM_001243254.2:c.3556G>A	NP_001230183.1:p.Val1186Ile
NM_001348749.2:c.3484G>A	NP_001335678.1:p.Val1162Ile
NM_001348750.2:c.3268G>A	NP_001335679.1:p.Val1090Ile