Canonical Allele Identifier: CA392419767

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997327-T-C
• MyVariant Identifiers: chr15:g.51289524T>C (hg19) ; chr15:g.50997327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997327T>C , CM000677.2:g.50997327T>C	GRCh38
NC_000015.9:g.51289524T>C , CM000677.1:g.51289524T>C	GRCh37
NC_000015.8:g.49076816T>C	NCBI36
NG_031875.1:g.93656T>C
NG_031875.2:g.93656T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2348T>C MANE Select	ENSP00000261842.5:p.Leu783Pro
ENST00000261842.9:c.2348T>C	ENSP00000261842.5:p.Leu783Pro
ENST00000558439.5:c.*1472T>C	ENSP00000452712.1:n.*1472T>C
ENST00000560508.1:c.2123T>C	ENSP00000452976.1:p.Leu708Pro
ENST00000561393.5:c.*1392T>C	ENSP00000452711.1:n.*1392T>C
NM_001252127.1:c.2123T>C	NP_001239056.1:p.Leu708Pro
NM_007347.4:c.2348T>C	NP_031373.2:p.Leu783Pro
XM_005254264.2:c.2123T>C	XP_005254321.1:p.Leu708Pro
XM_006720447.2:c.2123T>C	XP_006720510.1:p.Leu708Pro
XM_011521408.1:c.2168T>C	XP_011519710.1:p.Leu723Pro
XM_011521409.1:c.998T>C	XP_011519711.1:p.Leu333Pro
XM_005254264.4:c.2123T>C	XP_005254321.1:p.Leu708Pro
XM_006720447.4:c.2123T>C	XP_006720510.1:p.Leu708Pro
XM_017022042.2:c.1466T>C	XP_016877531.1:p.Leu489Pro
XR_001751183.1:n.2455T>C
XR_001751184.1:n.2331T>C
NM_007347.5:c.2348T>C MANE Select	NP_031373.2:p.Leu783Pro
NM_001252127.2:c.2123T>C	NP_001239056.1:p.Leu708Pro