Canonical Allele Identifier: CA130282

Gene: AP2S1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46846102C>A , CM000681.2:g.46846102C>A	GRCh38
NC_000019.9:g.47349359C>A , CM000681.1:g.47349359C>A	GRCh37
NC_000019.8:g.52041199C>A	NCBI36
NG_033136.1:g.9845G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004069.6:c.44G>T MANE Select	NP_004060.2:p.Arg15Leu
ENST00000263270.11:c.44G>T MANE Select	ENSP00000263270.6:p.Arg15Leu
NM_001301076.1:c.92G>T	NP_001288005.1:p.Arg31Leu
NM_001301076.2:c.92G>T	NP_001288005.1:p.Arg31Leu
NM_001301076.3:c.92G>T	NP_001288005.1:p.Arg31Leu
NM_001301078.1:c.44G>T	NP_001288007.1:p.Arg15Leu
NM_001301078.2:c.44G>T	NP_001288007.1:p.Arg15Leu
NM_001301078.3:c.44G>T	NP_001288007.1:p.Arg15Leu
NM_001301081.1:c.50G>T	NP_001288010.1:p.Arg17Leu
NM_001301081.2:c.50G>T	NP_001288010.1:p.Arg17Leu
NM_001301081.3:c.50G>T	NP_001288010.1:p.Arg17Leu
NM_004069.4:c.44G>T	NP_004060.2:p.Arg15Leu
NM_021575.3:c.44G>T	NP_067586.1:p.Arg15Leu
NM_021575.4:c.44G>T	NP_067586.1:p.Arg15Leu
NM_021575.5:c.44G>T	NP_067586.1:p.Arg15Leu
ENST00000263270.10:c.44G>T	ENSP00000263270.5:p.Arg15Leu
ENST00000352203.8:c.44G>T	ENSP00000263271.6:p.Arg15Leu
ENST00000593442.5:c.3+4662G>T	ENSP00000472080.1:n.3+4662G>T
ENST00000597020.5:c.-17G>T	ENSP00000470235.1:n.-17G>T
ENST00000597421.1:n.103G>T
ENST00000599990.5:c.50G>T	ENSP00000471340.1:p.Arg17Leu
ENST00000601498.5:c.92G>T	ENSP00000470176.1:p.Arg31Leu
ENST00000601649.1:c.44G>T	ENSP00000470898.1:p.Arg15Leu
XM_011526423.1:c.92G>T	XP_011524725.1:p.Arg31Leu
XM_011526423.2:c.92G>T	XP_011524725.1:p.Arg31Leu
XM_011526424.1:c.50G>T	XP_011524726.1:p.Arg17Leu
XM_011526424.3:c.50G>T	XP_011524726.1:p.Arg17Leu