Canonical Allele Identifier: CA379598037

Gene: DENND5A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3556G>C MANE Select	ENSP00000328524.3:p.Val1186Leu
ENST00000525784.6:n.1418G>C
ENST00000530780.2:c.*3382G>C	ENSP00000433925.1:n.*3382G>C
ENST00000531747.2:n.3227G>C
ENST00000679446.1:n.3477G>C
ENST00000679458.1:n.4957G>C
ENST00000679460.1:n.4618G>C
ENST00000679568.1:c.3556G>C	ENSP00000505860.1:p.Val1186Leu
ENST00000679745.1:n.4061G>C
ENST00000679773.1:n.2717G>C
ENST00000679926.1:n.4858G>C
ENST00000679999.1:c.*613G>C	ENSP00000505198.1:n.*613G>C
ENST00000680252.1:c.3223G>C
ENST00000680294.1:c.3349G>C	ENSP00000506113.1:p.Val1117Leu
ENST00000680358.1:n.2855G>C
ENST00000680470.1:c.*1337G>C	ENSP00000505975.1:n.*1337G>C
ENST00000680554.1:c.*89G>C	ENSP00000505621.1:n.*89G>C
ENST00000680576.1:n.5032G>C
ENST00000680599.1:n.3597G>C
ENST00000680742.1:c.*89G>C	ENSP00000505206.1:n.*89G>C
ENST00000680791.1:n.2440G>C
ENST00000680885.1:n.5258G>C
ENST00000681158.1:c.3140G>C
ENST00000681203.1:c.3484G>C	ENSP00000506456.1:p.Val1162Leu
ENST00000681371.1:n.3428G>C
ENST00000681425.1:n.4034G>C
ENST00000681639.1:n.1835G>C
ENST00000328194.7:c.3556G>C	ENSP00000328524.3:p.Val1186Leu
ENST00000525784.5:c.492G>C
ENST00000527700.5:n.3118G>C
ENST00000528725.5:c.252G>C
ENST00000529977.5:n.1457G>C
ENST00000530044.5:c.3556G>C	ENSP00000435866.1:p.Val1186Leu
ENST00000531747.1:c.792G>C
ENST00000533737.5:c.219G>C
NM_001243254.1:c.3556G>C	NP_001230183.1:p.Val1186Leu
NM_015213.3:c.3556G>C	NP_056028.2:p.Val1186Leu
XM_005252832.1:c.3556G>C	XP_005252889.1:p.Val1186Leu
XM_011519952.1:c.3556G>C	XP_011518254.1:p.Val1186Leu
XM_011519953.1:c.1654G>C	XP_011518255.1:p.Val552Leu
XR_242782.2:n.3738G>C
XR_930851.1:n.3738G>C
NM_001348749.1:c.3484G>C	NP_001335678.1:p.Val1162Leu
NM_001348750.1:c.3268G>C	NP_001335679.1:p.Val1090Leu
NR_145966.2:n.3730G>C
NM_015213.4:c.3556G>C MANE Select	NP_056028.2:p.Val1186Leu
NM_001243254.2:c.3556G>C	NP_001230183.1:p.Val1186Leu
NM_001348749.2:c.3484G>C	NP_001335678.1:p.Val1162Leu
NM_001348750.2:c.3268G>C	NP_001335679.1:p.Val1090Leu