Canonical Allele Identifier: CA379608686

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9182397C>A (hg19) ; chr11:g.9160850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160850C>A , CM000673.2:g.9160850C>A	GRCh38
NC_000011.9:g.9182397C>A , CM000673.1:g.9182397C>A	GRCh37
NC_000011.8:g.9138973C>A	NCBI36
NG_053019.1:g.109486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2299G>T MANE Select	ENSP00000328524.3:p.Val767Leu
ENST00000530780.2:c.*2125G>T	ENSP00000433925.1:n.*2125G>T
ENST00000679446.1:n.2220G>T
ENST00000679458.1:n.3700G>T
ENST00000679460.1:n.2088G>T
ENST00000679568.1:c.2299G>T	ENSP00000505860.1:p.Val767Leu
ENST00000679745.1:n.2088G>T
ENST00000679926.1:n.1115G>T
ENST00000679999.1:c.2299G>T	ENSP00000505198.1:p.Val767Leu
ENST00000680252.1:c.2088G>T
ENST00000680294.1:c.2299G>T	ENSP00000506113.1:p.Val767Leu
ENST00000680358.1:n.1598G>T
ENST00000680470.1:c.*165G>T	ENSP00000505975.1:n.*165G>T
ENST00000680554.1:c.2011G>T	ENSP00000505621.1:p.Val671Leu
ENST00000680576.1:n.2088G>T
ENST00000680599.1:n.2216G>T
ENST00000680742.1:c.2299G>T	ENSP00000505206.1:p.Val767Leu
ENST00000680885.1:n.2220G>T
ENST00000681158.1:c.2088G>T
ENST00000681173.1:n.2088G>T
ENST00000681203.1:c.2227G>T	ENSP00000506456.1:p.Val743Leu
ENST00000681425.1:n.2220G>T
ENST00000328194.7:c.2299G>T	ENSP00000328524.3:p.Val767Leu
ENST00000526707.5:c.2227G>T	ENSP00000436780.1:p.Val743Leu
ENST00000527700.5:n.1861G>T
ENST00000530044.5:c.2299G>T	ENSP00000435866.1:p.Val767Leu
NM_001243254.1:c.2299G>T	NP_001230183.1:p.Val767Leu
NM_015213.3:c.2299G>T	NP_056028.2:p.Val767Leu
XM_005252832.1:c.2299G>T	XP_005252889.1:p.Val767Leu
XM_011519952.1:c.2299G>T	XP_011518254.1:p.Val767Leu
XM_011519953.1:c.397G>T	XP_011518255.1:p.Val133Leu
XR_242782.2:n.2564G>T
XR_930851.1:n.2564G>T
XR_930852.1:n.2564G>T
XR_930853.1:n.2413G>T
NM_001348749.1:c.2227G>T	NP_001335678.1:p.Val743Leu
NM_001348750.1:c.2011G>T	NP_001335679.1:p.Val671Leu
NR_145966.2:n.2556G>T
NM_015213.4:c.2299G>T MANE Select	NP_056028.2:p.Val767Leu
NM_001243254.2:c.2299G>T	NP_001230183.1:p.Val767Leu
NM_001348749.2:c.2227G>T	NP_001335678.1:p.Val743Leu
NM_001348750.2:c.2011G>T	NP_001335679.1:p.Val671Leu