Canonical Allele Identifier: CA392419891

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289580G>T (hg19) ; chr15:g.50997383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997383G>T , CM000677.2:g.50997383G>T	GRCh38
NC_000015.9:g.51289580G>T , CM000677.1:g.51289580G>T	GRCh37
NC_000015.8:g.49076872G>T	NCBI36
NG_031875.1:g.93712G>T
NG_031875.2:g.93712G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2404G>T MANE Select	ENSP00000261842.5:p.Ala802Ser
ENST00000261842.9:c.2404G>T	ENSP00000261842.5:p.Ala802Ser
ENST00000558439.5:c.*1528G>T	ENSP00000452712.1:n.*1528G>T
ENST00000560508.1:c.2179G>T	ENSP00000452976.1:p.Ala727Ser
ENST00000561393.5:c.*1448G>T	ENSP00000452711.1:n.*1448G>T
NM_001252127.1:c.2179G>T	NP_001239056.1:p.Ala727Ser
NM_007347.4:c.2404G>T	NP_031373.2:p.Ala802Ser
XM_005254264.2:c.2179G>T	XP_005254321.1:p.Ala727Ser
XM_006720447.2:c.2179G>T	XP_006720510.1:p.Ala727Ser
XM_011521408.1:c.2224G>T	XP_011519710.1:p.Ala742Ser
XM_011521409.1:c.1054G>T	XP_011519711.1:p.Ala352Ser
XM_005254264.4:c.2179G>T	XP_005254321.1:p.Ala727Ser
XM_006720447.4:c.2179G>T	XP_006720510.1:p.Ala727Ser
XM_017022042.2:c.1522G>T	XP_016877531.1:p.Ala508Ser
XR_001751183.1:n.2511G>T
XR_001751184.1:n.2387G>T
NM_007347.5:c.2404G>T MANE Select	NP_031373.2:p.Ala802Ser
NM_001252127.2:c.2179G>T	NP_001239056.1:p.Ala727Ser