Canonical Allele Identifier: CA618011122

Gene: AP4E1

Linked Data

• dbSNP Id: rs1273706826
• gnomAD v2: 15-51289478-T-G
• gnomAD v4: 15-50997281-T-G
• MyVariant Identifiers: chr15:g.51289478T>G (hg19) ; chr15:g.50997281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997281T>G , CM000677.2:g.50997281T>G	GRCh38
NC_000015.9:g.51289478T>G , CM000677.1:g.51289478T>G	GRCh37
NC_000015.8:g.49076770T>G	NCBI36
NG_031875.1:g.93610T>G
NG_031875.2:g.93610T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2347-45T>G MANE Select	ENSP00000261842.5:n.2347-45T>G
ENST00000261842.9:c.2347-45T>G	ENSP00000261842.5:n.2347-45T>G
ENST00000558439.5:c.*1471-45T>G	ENSP00000452712.1:n.*1471-45T>G
ENST00000560508.1:c.2122-45T>G	ENSP00000452976.1:n.2122-45T>G
ENST00000561393.5:c.*1391-45T>G	ENSP00000452711.1:n.*1391-45T>G
NM_001252127.1:c.2122-45T>G	NP_001239056.1:n.2122-45T>G
NM_007347.4:c.2347-45T>G	NP_031373.2:n.2347-45T>G
XM_005254264.2:c.2122-45T>G	XP_005254321.1:n.2122-45T>G
XM_006720447.2:c.2122-45T>G	XP_006720510.1:n.2122-45T>G
XM_011521408.1:c.2167-45T>G	XP_011519710.1:n.2167-45T>G
XM_011521409.1:c.997-45T>G	XP_011519711.1:n.997-45T>G
XM_005254264.4:c.2122-45T>G	XP_005254321.1:n.2122-45T>G
XM_006720447.4:c.2122-45T>G	XP_006720510.1:n.2122-45T>G
XM_017022042.2:c.1465-45T>G	XP_016877531.1:n.1465-45T>G
XR_001751183.1:n.2454-45T>G
XR_001751184.1:n.2330-45T>G
NM_007347.5:c.2347-45T>G MANE Select	NP_031373.2:n.2347-45T>G
NM_001252127.2:c.2122-45T>G	NP_001239056.1:n.2122-45T>G