Canonical Allele Identifier: CA10356469

Gene: AP1S2

Linked Data

• ClinVar Variation Id: 2218349
• ClinVar RCV Id: RCV002687209 ; RCV003435890
• dbSNP Id: rs200944886
• ExAC: X:15870536 C / T
• gnomAD v2: X-15870536-C-T
• gnomAD v3: X-15852413-C-T
• gnomAD v4: X-15852413-C-T
• MyVariant Identifiers: chrX:g.15870536C>T (hg19) ; chrX:g.15852413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852413C>T , CM000685.2:g.15852413C>T	GRCh38
NC_000023.10:g.15870536C>T , CM000685.1:g.15870536C>T	GRCh37
NC_000023.9:g.15780457C>T	NCBI36
NG_009274.1:g.7565G>A
NG_009274.2:g.7565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.112G>A	ENSP00000389474.2:p.Val38Ile
ENST00000479184.2:c.112G>A	ENSP00000500850.1:p.Val38Ile
ENST00000545766.7:c.-21G>A	ENSP00000444957.3:n.-21G>A
ENST00000671830.1:c.112G>A	ENSP00000500483.1:p.Val38Ile
ENST00000672063.1:c.112G>A	ENSP00000500737.1:p.Val38Ile
ENST00000672987.1:c.112G>A MANE Select	ENSP00000500695.1:p.Val38Ile
ENST00000673445.1:c.112G>A	ENSP00000500798.1:p.Val38Ile
ENST00000673591.1:c.112G>A	ENSP00000500066.1:p.Val38Ile
ENST00000329235.6:c.112G>A	ENSP00000328789.2:p.Val38Ile
ENST00000380291.5:c.112G>A	ENSP00000369645.1:p.Val38Ile
ENST00000450644.1:c.90G>A
ENST00000452376.5:c.101G>A
ENST00000545766.5:c.112G>A	ENSP00000444957.2:p.Val38Ile
NM_001272071.1:c.112G>A	NP_001259000.1:p.Val38Ile
NM_003916.4:c.112G>A	NP_003907.3:p.Val38Ile
XM_005274614.3:c.238G>A	XP_005274671.1:p.Val80Ile
XM_011545599.1:c.238G>A	XP_011543901.1:p.Val80Ile
XR_247289.2:n.391G>A
XR_247290.3:n.326G>A
XM_017029925.1:c.238G>A	XP_016885414.1:p.Val80Ile
XM_017029926.2:c.238G>A	XP_016885415.1:p.Val80Ile
XR_001755741.2:n.391G>A
XR_002958809.1:n.162G>A
XR_247289.3:n.391G>A
XR_247290.4:n.391G>A
NM_001272071.2:c.112G>A MANE Select	NP_001259000.1:p.Val38Ile
NM_001368994.1:c.112G>A	NP_001355923.1:p.Val38Ile
NM_001369007.1:c.112G>A	NP_001355936.1:p.Val38Ile
NM_001369008.1:c.112G>A	NP_001355937.1:p.Val38Ile
NM_003916.5:c.112G>A	NP_003907.3:p.Val38Ile
NR_160932.1:n.238G>A
NR_160933.1:n.238G>A