Canonical Allele Identifier: CA392419914

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289589G>T (hg19) ; chr15:g.50997392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997392G>T , CM000677.2:g.50997392G>T	GRCh38
NC_000015.9:g.51289589G>T , CM000677.1:g.51289589G>T	GRCh37
NC_000015.8:g.49076881G>T	NCBI36
NG_031875.1:g.93721G>T
NG_031875.2:g.93721G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2413G>T MANE Select	ENSP00000261842.5:p.Gly805Cys
ENST00000261842.9:c.2413G>T	ENSP00000261842.5:p.Gly805Cys
ENST00000558439.5:c.*1537G>T	ENSP00000452712.1:n.*1537G>T
ENST00000560508.1:c.2188G>T	ENSP00000452976.1:p.Gly730Cys
ENST00000561393.5:c.*1457G>T	ENSP00000452711.1:n.*1457G>T
NM_001252127.1:c.2188G>T	NP_001239056.1:p.Gly730Cys
NM_007347.4:c.2413G>T	NP_031373.2:p.Gly805Cys
XM_005254264.2:c.2188G>T	XP_005254321.1:p.Gly730Cys
XM_006720447.2:c.2188G>T	XP_006720510.1:p.Gly730Cys
XM_011521408.1:c.2233G>T	XP_011519710.1:p.Gly745Cys
XM_011521409.1:c.1063G>T	XP_011519711.1:p.Gly355Cys
XM_005254264.4:c.2188G>T	XP_005254321.1:p.Gly730Cys
XM_006720447.4:c.2188G>T	XP_006720510.1:p.Gly730Cys
XM_017022042.2:c.1531G>T	XP_016877531.1:p.Gly511Cys
XR_001751183.1:n.2520G>T
XR_001751184.1:n.2396G>T
NM_007347.5:c.2413G>T MANE Select	NP_031373.2:p.Gly805Cys
NM_001252127.2:c.2188G>T	NP_001239056.1:p.Gly730Cys