Canonical Allele Identifier: CA406507996

Gene: AP2S1

Linked Data

• ClinVar Variation Id: 450031
• ClinVar RCV Id: RCV000523584
• dbSNP Id: rs1555748483
• MyVariant Identifiers: chr19:g.47342022A>G (hg19) ; chr19:g.46838765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46838765A>G , CM000681.2:g.46838765A>G	GRCh38
NC_000019.9:g.47342022A>G , CM000681.1:g.47342022A>G	GRCh37
NC_000019.8:g.52033862A>G	NCBI36
NG_033136.1:g.17182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263270.11:c.302T>C MANE Select	ENSP00000263270.6:p.Leu101Pro
ENST00000263270.10:c.302T>C	ENSP00000263270.5:p.Leu101Pro
ENST00000352203.8:c.344T>C	ENSP00000263271.6:p.Leu115Pro
ENST00000593442.5:c.152T>C	ENSP00000472080.1:p.Leu51Pro
ENST00000597020.5:c.242T>C	ENSP00000470235.1:p.Leu81Pro
ENST00000598027.1:n.227T>C
ENST00000599990.5:c.308T>C	ENSP00000471340.1:p.Leu103Pro
ENST00000600964.1:n.56T>C
ENST00000601498.5:c.350T>C	ENSP00000470176.1:p.Leu117Pro
ENST00000601649.1:c.188T>C	ENSP00000470898.1:p.Leu63Pro
NM_001301076.1:c.350T>C	NP_001288005.1:p.Leu117Pro
NM_001301078.1:c.344T>C	NP_001288007.1:p.Leu115Pro
NM_001301081.1:c.308T>C	NP_001288010.1:p.Leu103Pro
NM_004069.4:c.302T>C	NP_004060.2:p.Leu101Pro
NM_021575.3:c.188T>C	NP_067586.1:p.Leu63Pro
XM_011526423.1:c.392T>C	XP_011524725.1:p.Leu131Pro
XM_011526424.1:c.350T>C	XP_011524726.1:p.Leu117Pro
XM_011526423.2:c.392T>C	XP_011524725.1:p.Leu131Pro
XM_011526424.3:c.350T>C	XP_011524726.1:p.Leu117Pro
NM_001301076.2:c.350T>C	NP_001288005.1:p.Leu117Pro
NM_001301078.2:c.344T>C	NP_001288007.1:p.Leu115Pro
NM_001301081.2:c.308T>C	NP_001288010.1:p.Leu103Pro
NM_004069.6:c.302T>C MANE Select	NP_004060.2:p.Leu101Pro
NM_021575.4:c.188T>C	NP_067586.1:p.Leu63Pro
NM_001301076.3:c.350T>C	NP_001288005.1:p.Leu117Pro
NM_001301078.3:c.344T>C	NP_001288007.1:p.Leu115Pro
NM_001301081.3:c.308T>C	NP_001288010.1:p.Leu103Pro
NM_021575.5:c.188T>C	NP_067586.1:p.Leu63Pro