Canonical Allele Identifier: CA151847

Gene: AP4E1

Linked Data

• ClinVar Variation Id: 128401
• ClinVar RCV Id: RCV000116365 ; RCV000600841 ; RCV001520602
• dbSNP Id: rs2306331
• ExAC: 15:51217361 T / C
• gnomAD v2: 15-51217361-T-C
• gnomAD v3: 15-50925164-T-C
• gnomAD v4: 15-50925164-T-C
• MyVariant Identifiers: chr15:g.51217361T>C (hg19) ; chr15:g.50925164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50925164T>C , CM000677.2:g.50925164T>C	GRCh38
NC_000015.9:g.51217361T>C , CM000677.1:g.51217361T>C	GRCh37
NC_000015.8:g.49004653T>C	NCBI36
NG_031875.1:g.21493T>C
NG_031875.2:g.21493T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.487T>C MANE Select	ENSP00000261842.5:p.Cys163Arg
ENST00000261842.9:c.487T>C	ENSP00000261842.5:p.Cys163Arg
ENST00000558439.5:c.487T>C	ENSP00000452712.1:p.Cys163Arg
ENST00000560508.1:c.262T>C	ENSP00000452976.1:p.Cys88Arg
ENST00000561393.5:c.262T>C	ENSP00000452711.1:p.Cys88Arg
ENST00000561441.5:c.487T>C	ENSP00000453112.1:p.Cys163Arg
NM_001252127.1:c.262T>C	NP_001239056.1:p.Cys88Arg
NM_007347.4:c.487T>C	NP_031373.2:p.Cys163Arg
XM_005254264.2:c.262T>C	XP_005254321.1:p.Cys88Arg
XM_006720447.2:c.262T>C	XP_006720510.1:p.Cys88Arg
XM_011521408.1:c.307T>C	XP_011519710.1:p.Cys103Arg
XM_011521409.1:c.-954T>C	XP_011519711.1:n.-954T>C
XM_005254264.4:c.262T>C	XP_005254321.1:p.Cys88Arg
XM_006720447.4:c.262T>C	XP_006720510.1:p.Cys88Arg
XM_017022042.2:c.-484T>C	XP_016877531.1:n.-484T>C
XR_001751183.1:n.594T>C
XR_001751184.1:n.594T>C
XR_001751185.1:n.594T>C
NM_007347.5:c.487T>C MANE Select	NP_031373.2:p.Cys163Arg
NM_001252127.2:c.262T>C	NP_001239056.1:p.Cys88Arg