Canonical Allele Identifier: CA490342010

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997391-T-C
• MyVariant Identifiers: chr15:g.51289588T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997391T>C , CM000677.2:g.50997391T>C	GRCh38
NC_000015.9:g.51289588T>C , CM000677.1:g.51289588T>C	GRCh37
NC_000015.8:g.49076880T>C	NCBI36
NG_031875.1:g.93720T>C
NG_031875.2:g.93720T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2412T>C MANE Select	ENSP00000261842.5:p.Ser804=
ENST00000261842.9:c.2412T>C	ENSP00000261842.5:p.Ser804=
ENST00000558439.5:c.*1536T>C	ENSP00000452712.1:n.*1536T>C
ENST00000560508.1:c.2187T>C	ENSP00000452976.1:p.Ser729=
ENST00000561393.5:c.*1456T>C	ENSP00000452711.1:n.*1456T>C
NM_001252127.1:c.2187T>C	NP_001239056.1:p.Ser729=
NM_007347.4:c.2412T>C	NP_031373.2:p.Ser804=
XM_005254264.2:c.2187T>C	XP_005254321.1:p.Ser729=
XM_006720447.2:c.2187T>C	XP_006720510.1:p.Ser729=
XM_011521408.1:c.2232T>C	XP_011519710.1:p.Ser744=
XM_011521409.1:c.1062T>C	XP_011519711.1:p.Ser354=
XM_005254264.4:c.2187T>C	XP_005254321.1:p.Ser729=
XM_006720447.4:c.2187T>C	XP_006720510.1:p.Ser729=
XM_017022042.2:c.1530T>C	XP_016877531.1:p.Ser510=
XR_001751183.1:n.2519T>C
XR_001751184.1:n.2395T>C
NM_007347.5:c.2412T>C MANE Select	NP_031373.2:p.Ser804=
NM_001252127.2:c.2187T>C	NP_001239056.1:p.Ser729=