Canonical Allele Identifier: CA130281

Gene: AP2S1

Linked Data

• ClinVar Variation Id: 39424
• ClinVar RCV Id: RCV000032619 ; RCV001228882
• dbSNP Id: rs397514498
• MyVariant Identifiers: chr19:g.47349360G>A (hg19) ; chr19:g.46846103G>A (hg38)
• PubMed: PMID:1524075 ; PMID:20133464 ; PMID:23222959

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46846103G>A , CM000681.2:g.46846103G>A	GRCh38
NC_000019.9:g.47349360G>A , CM000681.1:g.47349360G>A	GRCh37
NC_000019.8:g.52041200G>A	NCBI36
NG_033136.1:g.9844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263270.11:c.43C>T MANE Select	ENSP00000263270.6:p.Arg15Cys
ENST00000263270.10:c.43C>T	ENSP00000263270.5:p.Arg15Cys
ENST00000352203.8:c.43C>T	ENSP00000263271.6:p.Arg15Cys
ENST00000593442.5:c.3+4661C>T	ENSP00000472080.1:n.3+4661C>T
ENST00000597020.5:c.-18C>T	ENSP00000470235.1:n.-18C>T
ENST00000597421.1:n.102C>T
ENST00000599990.5:c.49C>T	ENSP00000471340.1:p.Arg17Cys
ENST00000601498.5:c.91C>T	ENSP00000470176.1:p.Arg31Cys
ENST00000601649.1:c.43C>T	ENSP00000470898.1:p.Arg15Cys
NM_001301076.1:c.91C>T	NP_001288005.1:p.Arg31Cys
NM_001301078.1:c.43C>T	NP_001288007.1:p.Arg15Cys
NM_001301081.1:c.49C>T	NP_001288010.1:p.Arg17Cys
NM_004069.4:c.43C>T	NP_004060.2:p.Arg15Cys
NM_021575.3:c.43C>T	NP_067586.1:p.Arg15Cys
XM_011526423.1:c.91C>T	XP_011524725.1:p.Arg31Cys
XM_011526424.1:c.49C>T	XP_011524726.1:p.Arg17Cys
XM_011526423.2:c.91C>T	XP_011524725.1:p.Arg31Cys
XM_011526424.3:c.49C>T	XP_011524726.1:p.Arg17Cys
NM_001301076.2:c.91C>T	NP_001288005.1:p.Arg31Cys
NM_001301078.2:c.43C>T	NP_001288007.1:p.Arg15Cys
NM_001301081.2:c.49C>T	NP_001288010.1:p.Arg17Cys
NM_004069.6:c.43C>T MANE Select	NP_004060.2:p.Arg15Cys
NM_021575.4:c.43C>T	NP_067586.1:p.Arg15Cys
NM_001301076.3:c.91C>T	NP_001288005.1:p.Arg31Cys
NM_001301078.3:c.43C>T	NP_001288007.1:p.Arg15Cys
NM_001301081.3:c.49C>T	NP_001288010.1:p.Arg17Cys
NM_021575.5:c.43C>T	NP_067586.1:p.Arg15Cys