Canonical Allele Identifier: CA396673846

Gene: AP1G1

Linked Data

• ClinVar Variation Id: 1708218
• ClinVar RCV Id: RCV002287591
• dbSNP Id: rs2032319236
• MyVariant Identifiers: chr16:g.71823340G>A (hg19) ; chr16:g.71789437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71789437G>A , CM000678.2:g.71789437G>A	GRCh38
NC_000016.9:g.71823340G>A , CM000678.1:g.71823340G>A	GRCh37
NC_000016.8:g.70380841G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299980.9:c.43C>T MANE Select	ENSP00000299980.4:p.Arg15Trp
ENST00000299980.8:c.43C>T	ENSP00000299980.4:p.Arg15Trp
ENST00000393512.7:c.43C>T	ENSP00000377148.3:p.Arg15Trp
ENST00000450149.6:c.43C>T	ENSP00000405836.2:p.Arg15Trp
ENST00000563104.5:c.43C>T	ENSP00000454713.1:p.Arg15Trp
ENST00000563259.5:c.43C>T	ENSP00000456058.1:p.Arg15Trp
ENST00000565009.5:c.43C>T	ENSP00000457726.1:p.Arg15Trp
ENST00000565412.5:c.43C>T	ENSP00000456493.1:p.Arg15Trp
ENST00000566161.5:n.570C>T
ENST00000567583.1:c.43C>T	ENSP00000457927.1:p.Arg15Trp
ENST00000568327.5:c.43C>T	ENSP00000454970.1:p.Arg15Trp
ENST00000569185.5:c.43C>T	ENSP00000456316.1:p.Arg15Trp
ENST00000569748.5:c.43C>T	ENSP00000454523.1:p.Arg15Trp
ENST00000569975.5:c.43C>T	ENSP00000454717.1:p.Arg15Trp
ENST00000570017.1:c.43C>T	ENSP00000455400.1:p.Arg15Trp
ENST00000570297.5:n.490C>T
NM_001030007.1:c.43C>T	NP_001025178.1:p.Arg15Trp
NM_001128.5:c.43C>T	NP_001119.3:p.Arg15Trp
NM_001030007.2:c.43C>T	NP_001025178.1:p.Arg15Trp
NM_001128.6:c.43C>T MANE Select	NP_001119.3:p.Arg15Trp