Canonical Allele Identifier: CA7559138

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50958637C>T , CM000677.2:g.50958637C>T	GRCh38
NC_000015.9:g.51250834C>T , CM000677.1:g.51250834C>T	GRCh37
NC_000015.8:g.49038126C>T	NCBI36
NG_031875.1:g.54966C>T
NG_031875.2:g.54966C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1694C>T MANE Select	NP_031373.2:p.Ala565Val
ENST00000261842.10:c.1694C>T MANE Select	ENSP00000261842.5:p.Ala565Val
NM_001252127.1:c.1469C>T	NP_001239056.1:p.Ala490Val
NM_001252127.2:c.1469C>T	NP_001239056.1:p.Ala490Val
NM_007347.4:c.1694C>T	NP_031373.2:p.Ala565Val
ENST00000261842.9:c.1694C>T	ENSP00000261842.5:p.Ala565Val
ENST00000558439.5:c.*818C>T	ENSP00000452712.1:n.*818C>T
ENST00000560508.1:c.1469C>T	ENSP00000452976.1:p.Ala490Val
ENST00000561393.5:c.*738C>T	ENSP00000452711.1:n.*738C>T
XM_005254264.2:c.1469C>T	XP_005254321.1:p.Ala490Val
XM_005254264.4:c.1469C>T	XP_005254321.1:p.Ala490Val
XM_006720447.2:c.1469C>T	XP_006720510.1:p.Ala490Val
XM_006720447.4:c.1469C>T	XP_006720510.1:p.Ala490Val
XM_011521408.1:c.1514C>T	XP_011519710.1:p.Ala505Val
XM_011521409.1:c.344C>T	XP_011519711.1:p.Ala115Val
XM_017022042.2:c.812C>T	XP_016877531.1:p.Ala271Val
XR_001751183.1:n.1801C>T
XR_001751184.1:n.1801C>T
XR_001751185.1:n.1803C>T