Canonical Allele Identifier: CA392419905
Gene: AP4E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50997389A>G , CM000677.2:g.50997389A>G GRCh38
NC_000015.9:g.51289586A>G , CM000677.1:g.51289586A>G GRCh37
NC_000015.8:g.49076878A>G NCBI36
NG_031875.1:g.93718A>G
NG_031875.2:g.93718A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261842.10:c.2410A>G MANE Select ENSP00000261842.5:p.Ser804Gly
ENST00000261842.9:c.2410A>G ENSP00000261842.5:p.Ser804Gly
ENST00000558439.5:c.*1534A>G ENSP00000452712.1:n.*1534A>G
ENST00000560508.1:c.2185A>G ENSP00000452976.1:p.Ser729Gly
ENST00000561393.5:c.*1454A>G ENSP00000452711.1:n.*1454A>G
NM_001252127.1:c.2185A>G NP_001239056.1:p.Ser729Gly
NM_007347.4:c.2410A>G NP_031373.2:p.Ser804Gly
XM_005254264.2:c.2185A>G XP_005254321.1:p.Ser729Gly
XM_006720447.2:c.2185A>G XP_006720510.1:p.Ser729Gly
XM_011521408.1:c.2230A>G XP_011519710.1:p.Ser744Gly
XM_011521409.1:c.1060A>G XP_011519711.1:p.Ser354Gly
XM_005254264.4:c.2185A>G XP_005254321.1:p.Ser729Gly
XM_006720447.4:c.2185A>G XP_006720510.1:p.Ser729Gly
XM_017022042.2:c.1528A>G XP_016877531.1:p.Ser510Gly
XR_001751183.1:n.2517A>G
XR_001751184.1:n.2393A>G
NM_007347.5:c.2410A>G MANE Select NP_031373.2:p.Ser804Gly
NM_001252127.2:c.2185A>G NP_001239056.1:p.Ser729Gly