Canonical Allele Identifier: CA130281
Gene: AP2S1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39424
dbSNP Id: rs397514498

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