Canonical Allele Identifier: CA9058403

Gene: AP3D1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2109158T>G , CM000681.2:g.2109158T>G	GRCh38
NC_000019.9:g.2109157T>G , CM000681.1:g.2109157T>G	GRCh37
NC_000019.8:g.2060157T>G	NCBI36
NG_052886.2:g.60311A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699940.1:n.1282A>C
ENST00000699941.1:n.1552A>C
ENST00000699942.1:n.1492A>C
ENST00000699943.1:n.1588A>C
ENST00000700387.1:c.3364A>C	ENSP00000514969.1:p.Ile1122Leu
ENST00000586370.6:c.411-33A>C	ENSP00000468449.2:n.411-33A>C
ENST00000643116.3:c.3400A>C MANE Select	ENSP00000495274.2:p.Ile1134Leu
ENST00000644728.1:c.2590A>C	ENSP00000494972.1:p.Ile864Leu
ENST00000345016.9:c.3214A>C	ENSP00000344055.4:p.Ile1072Leu
ENST00000355272.10:c.3400A>C	ENSP00000347416.5:p.Ile1134Leu
ENST00000585652.5:n.3007A>C
ENST00000586370.5:c.352-33A>C
ENST00000589223.5:n.1925A>C
ENST00000589369.2:c.324A>C
ENST00000591650.1:n.637A>C
NM_001261826.1:c.3400A>C	NP_001248755.1:p.Ile1134Leu
NM_003938.6:c.3214A>C	NP_003929.4:p.Ile1072Leu
XM_006722932.1:c.3364A>C	XP_006722995.1:p.Ile1122Leu
NM_001261826.3:c.3400A>C MANE Select	NP_001248755.1:p.Ile1134Leu
NM_003938.7:c.3214A>C	NP_003929.4:p.Ile1072Leu
XM_006722932.2:c.3364A>C	XP_006722995.1:p.Ile1122Leu
XM_017027422.1:c.2716A>C	XP_016882911.1:p.Ile906Leu
NM_001374799.1:c.3364A>C	NP_001361728.1:p.Ile1122Leu
NM_003938.8:c.3214A>C	NP_003929.4:p.Ile1072Leu