Canonical Allele Identifier: CA490342011

Gene: AP4E1

Linked Data

• dbSNP Id: rs752770458
• gnomAD v2: 15-51289591-C-A
• gnomAD v4: 15-50997394-C-A
• MyVariant Identifiers: chr15:g.51289591C>A (hg19) ; chr15:g.50997394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997394C>A , CM000677.2:g.50997394C>A	GRCh38
NC_000015.9:g.51289591C>A , CM000677.1:g.51289591C>A	GRCh37
NC_000015.8:g.49076883C>A	NCBI36
NG_031875.1:g.93723C>A
NG_031875.2:g.93723C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2415C>A MANE Select	ENSP00000261842.5:p.Gly805=
ENST00000261842.9:c.2415C>A	ENSP00000261842.5:p.Gly805=
ENST00000558439.5:c.*1539C>A	ENSP00000452712.1:n.*1539C>A
ENST00000560508.1:c.2190C>A	ENSP00000452976.1:p.Gly730=
ENST00000561393.5:c.*1459C>A	ENSP00000452711.1:n.*1459C>A
NM_001252127.1:c.2190C>A	NP_001239056.1:p.Gly730=
NM_007347.4:c.2415C>A	NP_031373.2:p.Gly805=
XM_005254264.2:c.2190C>A	XP_005254321.1:p.Gly730=
XM_006720447.2:c.2190C>A	XP_006720510.1:p.Gly730=
XM_011521408.1:c.2235C>A	XP_011519710.1:p.Gly745=
XM_011521409.1:c.1065C>A	XP_011519711.1:p.Gly355=
XM_005254264.4:c.2190C>A	XP_005254321.1:p.Gly730=
XM_006720447.4:c.2190C>A	XP_006720510.1:p.Gly730=
XM_017022042.2:c.1533C>A	XP_016877531.1:p.Gly511=
XR_001751183.1:n.2522C>A
XR_001751184.1:n.2398C>A
NM_007347.5:c.2415C>A MANE Select	NP_031373.2:p.Gly805=
NM_001252127.2:c.2190C>A	NP_001239056.1:p.Gly730=