Canonical Allele Identifier: CA163413

Gene: AP1S2

Linked Data

• ClinVar Variation Id: 140457
• ClinVar RCV Id: RCV000128636
• dbSNP Id: rs587777542
• MyVariant Identifiers: chrX:g.15863501C>A (hg19) ; chrX:g.15845378C>A (hg38)
• PubMed: PMID:2018058 ; PMID:23756445

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15845378C>A , CM000685.2:g.15845378C>A	GRCh38
NC_000023.10:g.15863501C>A , CM000685.1:g.15863501C>A	GRCh37
NC_000023.9:g.15773422C>A	NCBI36
NG_009274.1:g.14600G>T
NG_009274.2:g.14600G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.426+1G>T	ENSP00000389474.2:n.426+1G>T
ENST00000479184.2:c.426+1G>T	ENSP00000500850.1:n.426+1G>T
ENST00000545766.7:c.294+1G>T	ENSP00000444957.3:n.294+1G>T
ENST00000671830.1:c.426+1G>T	ENSP00000500483.1:n.426+1G>T
ENST00000672063.1:c.426+1G>T	ENSP00000500737.1:n.426+1G>T
ENST00000672987.1:c.426+1G>T MANE Select	ENSP00000500695.1:n.426+1G>T
ENST00000673445.1:c.426+1G>T	ENSP00000500798.1:n.426+1G>T
ENST00000673591.1:c.426+1G>T	ENSP00000500066.1:n.426+1G>T
ENST00000329235.6:c.426+1G>T	ENSP00000328789.2:n.426+1G>T
ENST00000380291.5:c.426+1G>T	ENSP00000369645.1:n.426+1G>T
ENST00000450644.1:c.404+1G>T
ENST00000452376.5:c.415+1G>T
ENST00000479184.1:n.138+1G>T
ENST00000545766.5:c.426+1G>T	ENSP00000444957.2:n.426+1G>T
NM_001272071.1:c.426+1G>T	NP_001259000.1:n.426+1G>T
NM_003916.4:c.426+1G>T	NP_003907.3:n.426+1G>T
XM_005274614.3:c.552+1G>T	XP_005274671.1:n.552+1G>T
XM_011545599.1:c.552+1G>T	XP_011543901.1:n.552+1G>T
XR_247289.2:n.705+1G>T
XR_247290.3:n.640+1G>T
XM_017029925.1:c.552+1G>T	XP_016885414.1:n.552+1G>T
XM_017029926.2:c.552+1G>T	XP_016885415.1:n.552+1G>T
XR_001755741.2:n.705+1G>T
XR_002958809.1:n.476+1G>T
XR_247289.3:n.705+1G>T
XR_247290.4:n.705+1G>T
NM_001272071.2:c.426+1G>T MANE Select	NP_001259000.1:n.426+1G>T
NM_001368994.1:c.426+1G>T	NP_001355923.1:n.426+1G>T
NM_001369007.1:c.426+1G>T	NP_001355936.1:n.426+1G>T
NM_001369008.1:c.426+1G>T	NP_001355937.1:n.426+1G>T
NM_003916.5:c.426+1G>T	NP_003907.3:n.426+1G>T
NR_160932.1:n.552+1G>T
NR_160933.1:n.552+1G>T