Canonical Allele Identifier: CA408146111

Gene: AP5S1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3824116T>G , CM000682.2:g.3824116T>G	GRCh38
NC_000020.10:g.3804763T>G , CM000682.1:g.3804763T>G	GRCh37
NC_000020.9:g.3752763T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018347.3:c.422T>G MANE Select	NP_060817.1:p.Leu141Arg
ENST00000615891.2:c.422T>G MANE Select	ENSP00000481750.1:p.Leu141Arg
NM_001204446.1:c.422T>G	NP_001191375.1:p.Leu141Arg
NM_001204446.2:c.422T>G	NP_001191375.1:p.Leu141Arg
NM_001204447.1:c.422T>G	NP_001191376.1:p.Leu141Arg
NM_001204447.2:c.422T>G	NP_001191376.1:p.Leu141Arg
NM_018347.2:c.422T>G	NP_060817.1:p.Leu141Arg
ENST00000246041.6:c.422T>G	ENSP00000246041.2:p.Leu141Arg
ENST00000379567.6:c.422T>G	ENSP00000368886.2:p.Leu141Arg
ENST00000379573.6:c.*238T>G	ENSP00000368892.2:n.*238T>G
ENST00000615891.1:c.422T>G	ENSP00000481750.1:p.Leu141Arg