Canonical Allele Identifier: CA5877003

Gene: DENND5A

Linked Data

• dbSNP Id: rs777783501
• ExAC: 11:9163614 C / T
• gnomAD v2: 11-9163614-C-T
• gnomAD v4: 11-9142067-C-T
• COSMIC: COSM5839784
• MyVariant Identifiers: chr11:g.9163614C>T (hg19) ; chr11:g.9142067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142067C>T , CM000673.2:g.9142067C>T	GRCh38
NC_000011.9:g.9163614C>T , CM000673.1:g.9163614C>T	GRCh37
NC_000011.8:g.9120190C>T	NCBI36
NG_053019.1:g.128269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3553G>A MANE Select	ENSP00000328524.3:p.Val1185Ile
ENST00000525784.6:n.1415G>A
ENST00000530780.2:c.*3379G>A	ENSP00000433925.1:n.*3379G>A
ENST00000531747.2:n.3224G>A
ENST00000679446.1:n.3474G>A
ENST00000679458.1:n.4954G>A
ENST00000679460.1:n.4615G>A
ENST00000679568.1:c.3553G>A	ENSP00000505860.1:p.Val1185Ile
ENST00000679745.1:n.4058G>A
ENST00000679773.1:n.2714G>A
ENST00000679926.1:n.4855G>A
ENST00000679999.1:c.*610G>A	ENSP00000505198.1:n.*610G>A
ENST00000680252.1:c.3220G>A
ENST00000680294.1:c.3346G>A	ENSP00000506113.1:p.Val1116Ile
ENST00000680358.1:n.2852G>A
ENST00000680470.1:c.*1334G>A	ENSP00000505975.1:n.*1334G>A
ENST00000680554.1:c.*86G>A	ENSP00000505621.1:n.*86G>A
ENST00000680576.1:n.5029G>A
ENST00000680599.1:n.3594G>A
ENST00000680742.1:c.*86G>A	ENSP00000505206.1:n.*86G>A
ENST00000680791.1:n.2437G>A
ENST00000680885.1:n.5255G>A
ENST00000681158.1:c.3137G>A
ENST00000681203.1:c.3481G>A	ENSP00000506456.1:p.Val1161Ile
ENST00000681371.1:n.3425G>A
ENST00000681425.1:n.4031G>A
ENST00000681639.1:n.1832G>A
ENST00000328194.7:c.3553G>A	ENSP00000328524.3:p.Val1185Ile
ENST00000525784.5:c.489G>A
ENST00000527700.5:n.3115G>A
ENST00000528725.5:c.249G>A
ENST00000529977.5:n.1454G>A
ENST00000530044.5:c.3553G>A	ENSP00000435866.1:p.Val1185Ile
ENST00000531747.1:c.789G>A
ENST00000533737.5:c.216G>A
NM_001243254.1:c.3553G>A	NP_001230183.1:p.Val1185Ile
NM_015213.3:c.3553G>A	NP_056028.2:p.Val1185Ile
XM_005252832.1:c.3553G>A	XP_005252889.1:p.Val1185Ile
XM_011519952.1:c.3553G>A	XP_011518254.1:p.Val1185Ile
XM_011519953.1:c.1651G>A	XP_011518255.1:p.Val551Ile
XR_242782.2:n.3735G>A
XR_930851.1:n.3735G>A
NM_001348749.1:c.3481G>A	NP_001335678.1:p.Val1161Ile
NM_001348750.1:c.3265G>A	NP_001335679.1:p.Val1089Ile
NR_145966.2:n.3727G>A
NM_015213.4:c.3553G>A MANE Select	NP_056028.2:p.Val1185Ile
NM_001243254.2:c.3553G>A	NP_001230183.1:p.Val1185Ile
NM_001348749.2:c.3481G>A	NP_001335678.1:p.Val1161Ile
NM_001348750.2:c.3265G>A	NP_001335679.1:p.Val1089Ile