Canonical Allele Identifier: CA7558622

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50908807C>T , CM000677.2:g.50908807C>T	GRCh38
NC_000015.9:g.51201004C>T , CM000677.1:g.51201004C>T	GRCh37
NC_000015.8:g.48988296C>T	NCBI36
NG_031875.1:g.5136C>T
NG_031875.2:g.5136C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.29C>T MANE Select	NP_031373.2:p.Thr10Met
ENST00000261842.10:c.29C>T MANE Select	ENSP00000261842.5:p.Thr10Met
NM_001252127.1:c.-220C>T	NP_001239056.1:n.-220C>T
NM_001252127.2:c.-220C>T	NP_001239056.1:n.-220C>T
NM_007347.4:c.29C>T	NP_031373.2:p.Thr10Met
ENST00000261842.9:c.29C>T	ENSP00000261842.5:p.Thr10Met
ENST00000558439.5:c.29C>T	ENSP00000452712.1:p.Thr10Met
ENST00000560508.1:c.-220C>T	ENSP00000452976.1:n.-220C>T
ENST00000561393.5:c.-220C>T	ENSP00000452711.1:n.-220C>T
ENST00000561441.5:c.29C>T	ENSP00000453112.1:p.Thr10Met
XM_005254264.2:c.-76+164C>T	XP_005254321.1:n.-76+164C>T
XM_005254264.4:c.-76+164C>T	XP_005254321.1:n.-76+164C>T
XM_011521409.1:c.-1412C>T	XP_011519711.1:n.-1412C>T
XM_017022042.2:c.-942C>T	XP_016877531.1:n.-942C>T
XR_001751183.1:n.136C>T
XR_001751184.1:n.136C>T
XR_001751185.1:n.136C>T