Canonical Allele Identifier: CA2580087998

Gene: AP4S1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31080658G>A , CM000676.2:g.31080658G>A	GRCh38
NC_000014.8:g.31549864G>A , CM000676.1:g.31549864G>A	GRCh37
NC_000014.7:g.30619615G>A	NCBI36
NG_031913.1:g.60553G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128126.3:c.306+74G>A MANE Select	NP_001121598.1:n.306+74G>A
ENST00000542754.7:c.306+74G>A MANE Select	ENSP00000438170.2:n.306+74G>A
NM_001128126.2:c.306+74G>A	NP_001121598.1:n.306+74G>A
NM_001254726.1:c.295-4111G>A	NP_001241655.1:n.295-4111G>A
NM_001254726.2:c.295-4111G>A	NP_001241655.1:n.295-4111G>A
NM_001254727.1:c.366+14G>A	NP_001241656.1:n.366+14G>A
NM_001254727.2:c.366+14G>A	NP_001241656.1:n.366+14G>A
NM_001254728.1:c.306+74G>A	NP_001241657.1:n.306+74G>A
NM_001254728.2:c.306+74G>A	NP_001241657.1:n.306+74G>A
NM_001254729.1:c.306+74G>A	NP_001241658.1:n.306+74G>A
NM_001254729.2:c.306+74G>A	NP_001241658.1:n.306+74G>A
NM_007077.4:c.366+14G>A	NP_009008.2:n.366+14G>A
NM_007077.5:c.366+14G>A	NP_009008.2:n.366+14G>A
ENST00000216366.8:c.366+14G>A	ENSP00000216366.4:n.366+14G>A
ENST00000216366.9:c.295-2873G>A	ENSP00000216366.5:n.295-2873G>A
ENST00000313566.10:c.366+14G>A	ENSP00000322508.7:n.366+14G>A
ENST00000313566.11:c.380G>A	ENSP00000322508.8:p.Arg127Lys
ENST00000334725.8:c.366+14G>A	ENSP00000334484.4:n.366+14G>A
ENST00000542754.6:c.306+74G>A	ENSP00000438170.2:n.306+74G>A
ENST00000554345.5:c.295-4111G>A	ENSP00000450768.1:n.295-4111G>A
ENST00000554345.6:c.366+14G>A	ENSP00000450768.2:n.366+14G>A
ENST00000554609.5:c.298+7681G>A	ENSP00000452383.1:n.298+7681G>A
ENST00000554609.6:c.295-4111G>A	ENSP00000452383.2:n.295-4111G>A
ENST00000555417.6:c.306+74G>A	ENSP00000451609.2:n.306+74G>A
ENST00000557346.5:c.306+74G>A	ENSP00000451479.1:n.306+74G>A
ENST00000557346.6:c.306+74G>A	ENSP00000451479.2:n.306+74G>A
ENST00000616371.4:c.306+74G>A	ENSP00000477631.1:n.306+74G>A
ENST00000622409.4:c.306+74G>A	ENSP00000482876.1:n.306+74G>A
ENST00000672143.1:c.366+14G>A	ENSP00000500016.1:n.366+14G>A
ENST00000673001.1:c.294+7685G>A	ENSP00000500716.1:n.294+7685G>A
ENST00000673317.1:c.366+14G>A	ENSP00000500890.1:n.366+14G>A
XM_005267293.3:c.366+14G>A	XP_005267350.1:n.366+14G>A
XM_005267293.5:c.366+14G>A	XP_005267350.1:n.366+14G>A
XM_011536371.1:c.366+14G>A	XP_011534673.1:n.366+14G>A
XM_011536371.3:c.366+14G>A	XP_011534673.1:n.366+14G>A
XM_011536372.1:c.366+14G>A	XP_011534674.1:n.366+14G>A
XM_011536372.3:c.366+14G>A	XP_011534674.1:n.366+14G>A