Canonical Allele Identifier: CA2575724853

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997284-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997284T>C , CM000677.2:g.50997284T>C	GRCh38
NC_000015.9:g.51289481T>C , CM000677.1:g.51289481T>C	GRCh37
NC_000015.8:g.49076773T>C	NCBI36
NG_031875.1:g.93613T>C
NG_031875.2:g.93613T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-42T>C MANE Select	ENSP00000261842.5:n.2347-42T>C
ENST00000261842.9:c.2347-42T>C	ENSP00000261842.5:n.2347-42T>C
ENST00000558439.5:c.*1471-42T>C	ENSP00000452712.1:n.*1471-42T>C
ENST00000560508.1:c.2122-42T>C	ENSP00000452976.1:n.2122-42T>C
ENST00000561393.5:c.*1391-42T>C	ENSP00000452711.1:n.*1391-42T>C
NM_001252127.1:c.2122-42T>C	NP_001239056.1:n.2122-42T>C
NM_007347.4:c.2347-42T>C	NP_031373.2:n.2347-42T>C
XM_005254264.2:c.2122-42T>C	XP_005254321.1:n.2122-42T>C
XM_006720447.2:c.2122-42T>C	XP_006720510.1:n.2122-42T>C
XM_011521408.1:c.2167-42T>C	XP_011519710.1:n.2167-42T>C
XM_011521409.1:c.997-42T>C	XP_011519711.1:n.997-42T>C
XM_005254264.4:c.2122-42T>C	XP_005254321.1:n.2122-42T>C
XM_006720447.4:c.2122-42T>C	XP_006720510.1:n.2122-42T>C
XM_017022042.2:c.1465-42T>C	XP_016877531.1:n.1465-42T>C
XR_001751183.1:n.2454-42T>C
XR_001751184.1:n.2330-42T>C
NM_007347.5:c.2347-42T>C MANE Select	NP_031373.2:n.2347-42T>C
NM_001252127.2:c.2122-42T>C	NP_001239056.1:n.2122-42T>C