Canonical Allele Identifier: CA258583104

Gene: AP4S1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31080624A>G , CM000676.2:g.31080624A>G	GRCh38
NC_000014.8:g.31549830A>G , CM000676.1:g.31549830A>G	GRCh37
NC_000014.7:g.30619581A>G	NCBI36
NG_031913.1:g.60519A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128126.3:c.306+40A>G MANE Select	NP_001121598.1:n.306+40A>G
ENST00000542754.7:c.306+40A>G MANE Select	ENSP00000438170.2:n.306+40A>G
NM_001128126.2:c.306+40A>G	NP_001121598.1:n.306+40A>G
NM_001254726.1:c.295-4145A>G	NP_001241655.1:n.295-4145A>G
NM_001254726.2:c.295-4145A>G	NP_001241655.1:n.295-4145A>G
NM_001254727.1:c.346A>G	NP_001241656.1:p.Met116Val
NM_001254727.2:c.346A>G	NP_001241656.1:p.Met116Val
NM_001254728.1:c.306+40A>G	NP_001241657.1:n.306+40A>G
NM_001254728.2:c.306+40A>G	NP_001241657.1:n.306+40A>G
NM_001254729.1:c.306+40A>G	NP_001241658.1:n.306+40A>G
NM_001254729.2:c.306+40A>G	NP_001241658.1:n.306+40A>G
NM_007077.4:c.346A>G	NP_009008.2:p.Met116Val
NM_007077.5:c.346A>G	NP_009008.2:p.Met116Val
ENST00000216366.8:c.346A>G	ENSP00000216366.4:p.Met116Val
ENST00000216366.9:c.295-2907A>G	ENSP00000216366.5:n.295-2907A>G
ENST00000313566.10:c.346A>G	ENSP00000322508.7:p.Met116Val
ENST00000313566.11:c.346A>G	ENSP00000322508.8:p.Met116Val
ENST00000334725.8:c.346A>G	ENSP00000334484.4:p.Met116Val
ENST00000542754.6:c.306+40A>G	ENSP00000438170.2:n.306+40A>G
ENST00000554345.5:c.295-4145A>G	ENSP00000450768.1:n.295-4145A>G
ENST00000554345.6:c.346A>G	ENSP00000450768.2:p.Met116Val
ENST00000554609.5:c.298+7647A>G	ENSP00000452383.1:n.298+7647A>G
ENST00000554609.6:c.295-4145A>G	ENSP00000452383.2:n.295-4145A>G
ENST00000555417.6:c.306+40A>G	ENSP00000451609.2:n.306+40A>G
ENST00000557346.5:c.306+40A>G	ENSP00000451479.1:n.306+40A>G
ENST00000557346.6:c.306+40A>G	ENSP00000451479.2:n.306+40A>G
ENST00000616371.4:c.306+40A>G	ENSP00000477631.1:n.306+40A>G
ENST00000622409.4:c.306+40A>G	ENSP00000482876.1:n.306+40A>G
ENST00000672143.1:c.346A>G	ENSP00000500016.1:p.Met116Val
ENST00000673001.1:c.294+7651A>G	ENSP00000500716.1:n.294+7651A>G
ENST00000673317.1:c.346A>G	ENSP00000500890.1:p.Met116Val
XM_005267293.3:c.346A>G	XP_005267350.1:p.Met116Val
XM_005267293.5:c.346A>G	XP_005267350.1:p.Met116Val
XM_011536371.1:c.346A>G	XP_011534673.1:p.Met116Val
XM_011536371.3:c.346A>G	XP_011534673.1:p.Met116Val
XM_011536372.1:c.346A>G	XP_011534674.1:p.Met116Val
XM_011536372.3:c.346A>G	XP_011534674.1:p.Met116Val