Canonical Allele Identifier: CA392419892

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997383-G-C
• MyVariant Identifiers: chr15:g.51289580G>C (hg19) ; chr15:g.50997383G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2404G>C MANE Select	ENSP00000261842.5:p.Ala802Pro
ENST00000261842.9:c.2404G>C	ENSP00000261842.5:p.Ala802Pro
ENST00000558439.5:c.*1528G>C	ENSP00000452712.1:n.*1528G>C
ENST00000560508.1:c.2179G>C	ENSP00000452976.1:p.Ala727Pro
ENST00000561393.5:c.*1448G>C	ENSP00000452711.1:n.*1448G>C
NM_001252127.1:c.2179G>C	NP_001239056.1:p.Ala727Pro
NM_007347.4:c.2404G>C	NP_031373.2:p.Ala802Pro
XM_005254264.2:c.2179G>C	XP_005254321.1:p.Ala727Pro
XM_006720447.2:c.2179G>C	XP_006720510.1:p.Ala727Pro
XM_011521408.1:c.2224G>C	XP_011519710.1:p.Ala742Pro
XM_011521409.1:c.1054G>C	XP_011519711.1:p.Ala352Pro
XM_005254264.4:c.2179G>C	XP_005254321.1:p.Ala727Pro
XM_006720447.4:c.2179G>C	XP_006720510.1:p.Ala727Pro
XM_017022042.2:c.1522G>C	XP_016877531.1:p.Ala508Pro
XR_001751183.1:n.2511G>C
XR_001751184.1:n.2387G>C
NM_007347.5:c.2404G>C MANE Select	NP_031373.2:p.Ala802Pro
NM_001252127.2:c.2179G>C	NP_001239056.1:p.Ala727Pro