Canonical Allele Identifier: CA2417074367

Gene: AP1S2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15852419G= , CM000685.2:g.15852419G=	GRCh38
NC_000023.10:g.15870542G= , CM000685.1:g.15870542G=	GRCh37
NC_000023.9:g.15780463G=	NCBI36
NG_009274.1:g.7559C=
NG_009274.2:g.7559C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450644.2:c.106C=	ENSP00000389474.2:p.Gln36=
ENST00000479184.2:c.106C=	ENSP00000500850.1:p.Gln36=
ENST00000545766.7:c.-27C=	ENSP00000444957.3:n.-27C=
ENST00000671830.1:c.106C=	ENSP00000500483.1:p.Gln36=
ENST00000672063.1:c.106C=	ENSP00000500737.1:p.Gln36=
ENST00000672987.1:c.106C= MANE Select	ENSP00000500695.1:p.Gln36=
ENST00000673445.1:c.106C=	ENSP00000500798.1:p.Gln36=
ENST00000673591.1:c.106C=	ENSP00000500066.1:p.Gln36=
ENST00000329235.6:c.106C=	ENSP00000328789.2:p.Gln36=
ENST00000380291.5:c.106C=	ENSP00000369645.1:p.Gln36=
ENST00000450644.1:c.84C=
ENST00000452376.5:c.95C=
ENST00000545766.5:c.106C=	ENSP00000444957.2:p.Gln36=
NM_001272071.1:c.106C=	NP_001259000.1:p.Gln36=
NM_003916.4:c.106C=	NP_003907.3:p.Gln36=
XM_005274614.3:c.232C=	XP_005274671.1:p.Gln78=
XM_011545599.1:c.232C=	XP_011543901.1:p.Gln78=
XR_247289.2:n.385C=
XR_247290.3:n.320C=
XM_017029925.1:c.232C=	XP_016885414.1:p.Gln78=
XM_017029926.2:c.232C=	XP_016885415.1:p.Gln78=
XR_001755741.2:n.385C=
XR_002958809.1:n.156C=
XR_247289.3:n.385C=
XR_247290.4:n.385C=
NM_001272071.2:c.106C= MANE Select	NP_001259000.1:p.Gln36=
NM_001368994.1:c.106C=	NP_001355923.1:p.Gln36=
NM_001369007.1:c.106C=	NP_001355936.1:p.Gln36=
NM_001369008.1:c.106C=	NP_001355937.1:p.Gln36=
NM_003916.5:c.106C=	NP_003907.3:p.Gln36=
NR_160932.1:n.232C=
NR_160933.1:n.232C=