Canonical Allele Identifier: CA412459321

Gene: AP1S2

Linked Data

• dbSNP Id: rs1352450127
• gnomAD v2: X-15870527-G-A
• gnomAD v4: X-15852404-G-A
• MyVariant Identifiers: chrX:g.15870527G>A (hg19) ; chrX:g.15852404G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852404G>A , CM000685.2:g.15852404G>A	GRCh38
NC_000023.10:g.15870527G>A , CM000685.1:g.15870527G>A	GRCh37
NC_000023.9:g.15780448G>A	NCBI36
NG_009274.1:g.7574C>T
NG_009274.2:g.7574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.121C>T	ENSP00000389474.2:p.Arg41Trp
ENST00000479184.2:c.121C>T	ENSP00000500850.1:p.Arg41Trp
ENST00000545766.7:c.-12C>T	ENSP00000444957.3:n.-12C>T
ENST00000671830.1:c.121C>T	ENSP00000500483.1:p.Arg41Trp
ENST00000672063.1:c.121C>T	ENSP00000500737.1:p.Arg41Trp
ENST00000672987.1:c.121C>T MANE Select	ENSP00000500695.1:p.Arg41Trp
ENST00000673445.1:c.121C>T	ENSP00000500798.1:p.Arg41Trp
ENST00000673591.1:c.121C>T	ENSP00000500066.1:p.Arg41Trp
ENST00000329235.6:c.121C>T	ENSP00000328789.2:p.Arg41Trp
ENST00000380291.5:c.121C>T	ENSP00000369645.1:p.Arg41Trp
ENST00000450644.1:c.99C>T
ENST00000452376.5:c.110C>T
ENST00000545766.5:c.121C>T	ENSP00000444957.2:p.Arg41Trp
NM_001272071.1:c.121C>T	NP_001259000.1:p.Arg41Trp
NM_003916.4:c.121C>T	NP_003907.3:p.Arg41Trp
XM_005274614.3:c.247C>T	XP_005274671.1:p.Arg83Trp
XM_011545599.1:c.247C>T	XP_011543901.1:p.Arg83Trp
XR_247289.2:n.400C>T
XR_247290.3:n.335C>T
XM_017029925.1:c.247C>T	XP_016885414.1:p.Arg83Trp
XM_017029926.2:c.247C>T	XP_016885415.1:p.Arg83Trp
XR_001755741.2:n.400C>T
XR_002958809.1:n.171C>T
XR_247289.3:n.400C>T
XR_247290.4:n.400C>T
NM_001272071.2:c.121C>T MANE Select	NP_001259000.1:p.Arg41Trp
NM_001368994.1:c.121C>T	NP_001355923.1:p.Arg41Trp
NM_001369007.1:c.121C>T	NP_001355936.1:p.Arg41Trp
NM_001369008.1:c.121C>T	NP_001355937.1:p.Arg41Trp
NM_003916.5:c.121C>T	NP_003907.3:p.Arg41Trp
NR_160932.1:n.247C>T
NR_160933.1:n.247C>T