Canonical Allele Identifier: CA618011109

Gene: AP4E1

Linked Data

• dbSNP Id: rs1261033946
• gnomAD v2: 15-51289385-G-T
• gnomAD v3: 15-50997188-G-T
• gnomAD v4: 15-50997188-G-T
• MyVariant Identifiers: chr15:g.51289385G>T (hg19) ; chr15:g.50997188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997188G>T , CM000677.2:g.50997188G>T	GRCh38
NC_000015.9:g.51289385G>T , CM000677.1:g.51289385G>T	GRCh37
NC_000015.8:g.49076677G>T	NCBI36
NG_031875.1:g.93517G>T
NG_031875.2:g.93517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.2347-138G>T MANE Select	ENSP00000261842.5:n.2347-138G>T
ENST00000261842.9:c.2347-138G>T	ENSP00000261842.5:n.2347-138G>T
ENST00000558439.5:c.*1471-138G>T	ENSP00000452712.1:n.*1471-138G>T
ENST00000560508.1:c.2122-138G>T	ENSP00000452976.1:n.2122-138G>T
ENST00000561393.5:c.*1391-138G>T	ENSP00000452711.1:n.*1391-138G>T
NM_001252127.1:c.2122-138G>T	NP_001239056.1:n.2122-138G>T
NM_007347.4:c.2347-138G>T	NP_031373.2:n.2347-138G>T
XM_005254264.2:c.2122-138G>T	XP_005254321.1:n.2122-138G>T
XM_006720447.2:c.2122-138G>T	XP_006720510.1:n.2122-138G>T
XM_011521408.1:c.2167-138G>T	XP_011519710.1:n.2167-138G>T
XM_011521409.1:c.997-138G>T	XP_011519711.1:n.997-138G>T
XM_005254264.4:c.2122-138G>T	XP_005254321.1:n.2122-138G>T
XM_006720447.4:c.2122-138G>T	XP_006720510.1:n.2122-138G>T
XM_017022042.2:c.1465-138G>T	XP_016877531.1:n.1465-138G>T
XR_001751183.1:n.2454-138G>T
XR_001751184.1:n.2330-138G>T
NM_007347.5:c.2347-138G>T MANE Select	NP_031373.2:n.2347-138G>T
NM_001252127.2:c.2122-138G>T	NP_001239056.1:n.2122-138G>T