Canonical Allele Identifier: CA379597191

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163505A>G (hg19) ; chr11:g.9141958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141958A>G , CM000673.2:g.9141958A>G	GRCh38
NC_000011.9:g.9163505A>G , CM000673.1:g.9163505A>G	GRCh37
NC_000011.8:g.9120081A>G	NCBI36
NG_053019.1:g.128378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3662T>C MANE Select	ENSP00000328524.3:p.Leu1221Pro
ENST00000525784.6:n.1524T>C
ENST00000530780.2:c.*3488T>C	ENSP00000433925.1:n.*3488T>C
ENST00000531747.2:n.3333T>C
ENST00000679446.1:n.3583T>C
ENST00000679458.1:n.5063T>C
ENST00000679460.1:n.4724T>C
ENST00000679568.1:c.3662T>C	ENSP00000505860.1:p.Leu1221Pro
ENST00000679745.1:n.4167T>C
ENST00000679773.1:n.2823T>C
ENST00000679926.1:n.4964T>C
ENST00000679999.1:c.*719T>C	ENSP00000505198.1:n.*719T>C
ENST00000680252.1:c.3329T>C
ENST00000680294.1:c.3455T>C	ENSP00000506113.1:p.Leu1152Pro
ENST00000680358.1:n.2961T>C
ENST00000680470.1:c.*1443T>C	ENSP00000505975.1:n.*1443T>C
ENST00000680554.1:c.*195T>C	ENSP00000505621.1:n.*195T>C
ENST00000680576.1:n.5138T>C
ENST00000680599.1:n.3703T>C
ENST00000680742.1:c.*179+16T>C	ENSP00000505206.1:n.*179+16T>C
ENST00000680791.1:n.2546T>C
ENST00000680885.1:n.5364T>C
ENST00000681158.1:c.3246T>C
ENST00000681203.1:c.3590T>C	ENSP00000506456.1:p.Leu1197Pro
ENST00000681371.1:n.3534T>C
ENST00000681425.1:n.4140T>C
ENST00000681639.1:n.1941T>C
ENST00000328194.7:c.3662T>C	ENSP00000328524.3:p.Leu1221Pro
ENST00000525784.5:c.598T>C
ENST00000527700.5:n.3224T>C
ENST00000528725.5:c.358T>C
ENST00000529977.5:n.1563T>C
ENST00000530044.5:c.3646+16T>C	ENSP00000435866.1:n.3646+16T>C
ENST00000531747.1:c.898T>C
ENST00000533737.5:c.325T>C
NM_001243254.1:c.3646+16T>C	NP_001230183.1:n.3646+16T>C
NM_015213.3:c.3662T>C	NP_056028.2:p.Leu1221Pro
XM_005252832.1:c.3662T>C	XP_005252889.1:p.Leu1221Pro
XM_011519952.1:c.3646+16T>C	XP_011518254.1:n.3646+16T>C
XM_011519953.1:c.1760T>C	XP_011518255.1:p.Leu587Pro
XR_242782.2:n.3844T>C
XR_930851.1:n.3828+16T>C
NM_001348749.1:c.3590T>C	NP_001335678.1:p.Leu1197Pro
NM_001348750.1:c.3374T>C	NP_001335679.1:p.Leu1125Pro
NR_145966.2:n.3836T>C
NM_015213.4:c.3662T>C MANE Select	NP_056028.2:p.Leu1221Pro
NM_001243254.2:c.3646+16T>C	NP_001230183.1:n.3646+16T>C
NM_001348749.2:c.3590T>C	NP_001335678.1:p.Leu1197Pro
NM_001348750.2:c.3374T>C	NP_001335679.1:p.Leu1125Pro