Canonical Allele Identifier: CA392419942

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289603T>G (hg19) ; chr15:g.50997406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997406T>G , CM000677.2:g.50997406T>G	GRCh38
NC_000015.9:g.51289603T>G , CM000677.1:g.51289603T>G	GRCh37
NC_000015.8:g.49076895T>G	NCBI36
NG_031875.1:g.93735T>G
NG_031875.2:g.93735T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2427T>G MANE Select	ENSP00000261842.5:p.Ser809Arg
ENST00000261842.9:c.2427T>G	ENSP00000261842.5:p.Ser809Arg
ENST00000558439.5:c.*1551T>G	ENSP00000452712.1:n.*1551T>G
ENST00000560508.1:c.2202T>G	ENSP00000452976.1:p.Ser734Arg
ENST00000561393.5:c.*1471T>G	ENSP00000452711.1:n.*1471T>G
NM_001252127.1:c.2202T>G	NP_001239056.1:p.Ser734Arg
NM_007347.4:c.2427T>G	NP_031373.2:p.Ser809Arg
XM_005254264.2:c.2202T>G	XP_005254321.1:p.Ser734Arg
XM_006720447.2:c.2202T>G	XP_006720510.1:p.Ser734Arg
XM_011521408.1:c.2247T>G	XP_011519710.1:p.Ser749Arg
XM_011521409.1:c.1077T>G	XP_011519711.1:p.Ser359Arg
XM_005254264.4:c.2202T>G	XP_005254321.1:p.Ser734Arg
XM_006720447.4:c.2202T>G	XP_006720510.1:p.Ser734Arg
XM_017022042.2:c.1545T>G	XP_016877531.1:p.Ser515Arg
XR_001751183.1:n.2534T>G
XR_001751184.1:n.2410T>G
NM_007347.5:c.2427T>G MANE Select	NP_031373.2:p.Ser809Arg
NM_001252127.2:c.2202T>G	NP_001239056.1:p.Ser734Arg