Canonical Allele Identifier: CA379597890

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163595C>A (hg19) ; chr11:g.9142048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142048C>A , CM000673.2:g.9142048C>A	GRCh38
NC_000011.9:g.9163595C>A , CM000673.1:g.9163595C>A	GRCh37
NC_000011.8:g.9120171C>A	NCBI36
NG_053019.1:g.128288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3572G>T MANE Select	ENSP00000328524.3:p.Trp1191Leu
ENST00000525784.6:n.1434G>T
ENST00000530780.2:c.*3398G>T	ENSP00000433925.1:n.*3398G>T
ENST00000531747.2:n.3243G>T
ENST00000679446.1:n.3493G>T
ENST00000679458.1:n.4973G>T
ENST00000679460.1:n.4634G>T
ENST00000679568.1:c.3572G>T	ENSP00000505860.1:p.Trp1191Leu
ENST00000679745.1:n.4077G>T
ENST00000679773.1:n.2733G>T
ENST00000679926.1:n.4874G>T
ENST00000679999.1:c.*629G>T	ENSP00000505198.1:n.*629G>T
ENST00000680252.1:c.3239G>T
ENST00000680294.1:c.3365G>T	ENSP00000506113.1:p.Trp1122Leu
ENST00000680358.1:n.2871G>T
ENST00000680470.1:c.*1353G>T	ENSP00000505975.1:n.*1353G>T
ENST00000680554.1:c.*105G>T	ENSP00000505621.1:n.*105G>T
ENST00000680576.1:n.5048G>T
ENST00000680599.1:n.3613G>T
ENST00000680742.1:c.*105G>T	ENSP00000505206.1:n.*105G>T
ENST00000680791.1:n.2456G>T
ENST00000680885.1:n.5274G>T
ENST00000681158.1:c.3156G>T
ENST00000681203.1:c.3500G>T	ENSP00000506456.1:p.Trp1167Leu
ENST00000681371.1:n.3444G>T
ENST00000681425.1:n.4050G>T
ENST00000681639.1:n.1851G>T
ENST00000328194.7:c.3572G>T	ENSP00000328524.3:p.Trp1191Leu
ENST00000525784.5:c.508G>T
ENST00000527700.5:n.3134G>T
ENST00000528725.5:c.268G>T
ENST00000529977.5:n.1473G>T
ENST00000530044.5:c.3572G>T	ENSP00000435866.1:p.Trp1191Leu
ENST00000531747.1:c.808G>T
ENST00000533737.5:c.235G>T
NM_001243254.1:c.3572G>T	NP_001230183.1:p.Trp1191Leu
NM_015213.3:c.3572G>T	NP_056028.2:p.Trp1191Leu
XM_005252832.1:c.3572G>T	XP_005252889.1:p.Trp1191Leu
XM_011519952.1:c.3572G>T	XP_011518254.1:p.Trp1191Leu
XM_011519953.1:c.1670G>T	XP_011518255.1:p.Trp557Leu
XR_242782.2:n.3754G>T
XR_930851.1:n.3754G>T
NM_001348749.1:c.3500G>T	NP_001335678.1:p.Trp1167Leu
NM_001348750.1:c.3284G>T	NP_001335679.1:p.Trp1095Leu
NR_145966.2:n.3746G>T
NM_015213.4:c.3572G>T MANE Select	NP_056028.2:p.Trp1191Leu
NM_001243254.2:c.3572G>T	NP_001230183.1:p.Trp1191Leu
NM_001348749.2:c.3500G>T	NP_001335678.1:p.Trp1167Leu
NM_001348750.2:c.3284G>T	NP_001335679.1:p.Trp1095Leu