Canonical Allele Identifier: CA7144153
Gene: AP4S1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417874
ClinVar RCV Id: RCV000477933
dbSNP Id: rs377679827

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31066336T>G , CM000676.2:g.31066336T>G GRCh38
NC_000014.8:g.31535542T>G , CM000676.1:g.31535542T>G GRCh37
NC_000014.7:g.30605293T>G NCBI36
NG_031913.1:g.46231T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556232.7:c.138+2T>G ENSP00000451918.2:n.138+2T>G
ENST00000216366.9:c.138+2T>G ENSP00000216366.5:n.138+2T>G
ENST00000313566.11:c.138+2T>G ENSP00000322508.8:n.138+2T>G
ENST00000554345.6:c.138+2T>G ENSP00000450768.2:n.138+2T>G
ENST00000554609.6:c.138+2T>G ENSP00000452383.2:n.138+2T>G
ENST00000555417.6:c.138+2T>G ENSP00000451609.2:n.138+2T>G
ENST00000556232.6:c.138+2T>G ENSP00000451918.2:n.138+2T>G
ENST00000557346.6:c.138+2T>G ENSP00000451479.2:n.138+2T>G
ENST00000542754.7:c.138+2T>G MANE Select ENSP00000438170.2:n.138+2T>G
ENST00000672143.1:c.138+2T>G ENSP00000500016.1:n.138+2T>G
ENST00000673001.1:c.138+2T>G ENSP00000500716.1:n.138+2T>G
ENST00000673317.1:c.138+2T>G ENSP00000500890.1:n.138+2T>G
ENST00000216366.8:c.138+2T>G ENSP00000216366.4:n.138+2T>G
ENST00000313566.10:c.138+2T>G ENSP00000322508.7:n.138+2T>G
ENST00000334725.8:c.138+2T>G ENSP00000334484.4:n.138+2T>G
ENST00000542754.6:c.138+2T>G ENSP00000438170.2:n.138+2T>G
ENST00000554345.5:c.138+2T>G ENSP00000450768.1:n.138+2T>G
ENST00000554609.5:c.138+2T>G ENSP00000452383.1:n.138+2T>G
ENST00000556232.5:c.138+2T>G ENSP00000451918.1:n.138+2T>G
ENST00000556480.1:c.39+2T>G ENSP00000451614.1:n.39+2T>G
ENST00000557346.5:c.138+2T>G ENSP00000451479.1:n.138+2T>G
ENST00000616371.4:c.138+2T>G ENSP00000477631.1:n.138+2T>G
ENST00000622409.4:c.138+2T>G ENSP00000482876.1:n.138+2T>G
NM_001128126.2:c.138+2T>G NP_001121598.1:n.138+2T>G
NM_001254726.1:c.138+2T>G NP_001241655.1:n.138+2T>G
NM_001254727.1:c.138+2T>G NP_001241656.1:n.138+2T>G
NM_001254728.1:c.138+2T>G NP_001241657.1:n.138+2T>G
NM_001254729.1:c.138+2T>G NP_001241658.1:n.138+2T>G
NM_007077.4:c.138+2T>G NP_009008.2:n.138+2T>G
XM_005267293.3:c.138+2T>G XP_005267350.1:n.138+2T>G
XM_011536371.1:c.138+2T>G XP_011534673.1:n.138+2T>G
XM_011536372.1:c.138+2T>G XP_011534674.1:n.138+2T>G
XM_005267293.5:c.138+2T>G XP_005267350.1:n.138+2T>G
XM_011536371.3:c.138+2T>G XP_011534673.1:n.138+2T>G
XM_011536372.3:c.138+2T>G XP_011534674.1:n.138+2T>G
NM_001128126.3:c.138+2T>G MANE Select NP_001121598.1:n.138+2T>G
NM_001254726.2:c.138+2T>G NP_001241655.1:n.138+2T>G
NM_001254727.2:c.138+2T>G NP_001241656.1:n.138+2T>G
NM_001254728.2:c.138+2T>G NP_001241657.1:n.138+2T>G
NM_001254729.2:c.138+2T>G NP_001241658.1:n.138+2T>G
NM_007077.5:c.138+2T>G NP_009008.2:n.138+2T>G