Canonical Allele Identifier: CA379597196

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163506G>C (hg19) ; chr11:g.9141959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141959G>C , CM000673.2:g.9141959G>C	GRCh38
NC_000011.9:g.9163506G>C , CM000673.1:g.9163506G>C	GRCh37
NC_000011.8:g.9120082G>C	NCBI36
NG_053019.1:g.128377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3661C>G MANE Select	ENSP00000328524.3:p.Leu1221Val
ENST00000525784.6:n.1523C>G
ENST00000530780.2:c.*3487C>G	ENSP00000433925.1:n.*3487C>G
ENST00000531747.2:n.3332C>G
ENST00000679446.1:n.3582C>G
ENST00000679458.1:n.5062C>G
ENST00000679460.1:n.4723C>G
ENST00000679568.1:c.3661C>G	ENSP00000505860.1:p.Leu1221Val
ENST00000679745.1:n.4166C>G
ENST00000679773.1:n.2822C>G
ENST00000679926.1:n.4963C>G
ENST00000679999.1:c.*718C>G	ENSP00000505198.1:n.*718C>G
ENST00000680252.1:c.3328C>G
ENST00000680294.1:c.3454C>G	ENSP00000506113.1:p.Leu1152Val
ENST00000680358.1:n.2960C>G
ENST00000680470.1:c.*1442C>G	ENSP00000505975.1:n.*1442C>G
ENST00000680554.1:c.*194C>G	ENSP00000505621.1:n.*194C>G
ENST00000680576.1:n.5137C>G
ENST00000680599.1:n.3702C>G
ENST00000680742.1:c.*179+15C>G	ENSP00000505206.1:n.*179+15C>G
ENST00000680791.1:n.2545C>G
ENST00000680885.1:n.5363C>G
ENST00000681158.1:c.3245C>G
ENST00000681203.1:c.3589C>G	ENSP00000506456.1:p.Leu1197Val
ENST00000681371.1:n.3533C>G
ENST00000681425.1:n.4139C>G
ENST00000681639.1:n.1940C>G
ENST00000328194.7:c.3661C>G	ENSP00000328524.3:p.Leu1221Val
ENST00000525784.5:c.597C>G
ENST00000527700.5:n.3223C>G
ENST00000528725.5:c.357C>G
ENST00000529977.5:n.1562C>G
ENST00000530044.5:c.3646+15C>G	ENSP00000435866.1:n.3646+15C>G
ENST00000531747.1:c.897C>G
ENST00000533737.5:c.324C>G
NM_001243254.1:c.3646+15C>G	NP_001230183.1:n.3646+15C>G
NM_015213.3:c.3661C>G	NP_056028.2:p.Leu1221Val
XM_005252832.1:c.3661C>G	XP_005252889.1:p.Leu1221Val
XM_011519952.1:c.3646+15C>G	XP_011518254.1:n.3646+15C>G
XM_011519953.1:c.1759C>G	XP_011518255.1:p.Leu587Val
XR_242782.2:n.3843C>G
XR_930851.1:n.3828+15C>G
NM_001348749.1:c.3589C>G	NP_001335678.1:p.Leu1197Val
NM_001348750.1:c.3373C>G	NP_001335679.1:p.Leu1125Val
NR_145966.2:n.3835C>G
NM_015213.4:c.3661C>G MANE Select	NP_056028.2:p.Leu1221Val
NM_001243254.2:c.3646+15C>G	NP_001230183.1:n.3646+15C>G
NM_001348749.2:c.3589C>G	NP_001335678.1:p.Leu1197Val
NM_001348750.2:c.3373C>G	NP_001335679.1:p.Leu1125Val