Canonical Allele Identifier: CA270516991

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50930792C>T , CM000677.2:g.50930792C>T	GRCh38
NC_000015.9:g.51222989C>T , CM000677.1:g.51222989C>T	GRCh37
NC_000015.8:g.49010281C>T	NCBI36
NG_031875.1:g.27121C>T
NG_031875.2:g.27121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.703-13C>T MANE Select	ENSP00000261842.5:n.703-13C>T
ENST00000261842.9:c.703-13C>T	ENSP00000261842.5:n.703-13C>T
ENST00000558439.5:c.703-13C>T	ENSP00000452712.1:n.703-13C>T
ENST00000560508.1:c.478-13C>T	ENSP00000452976.1:n.478-13C>T
ENST00000561393.5:c.478-13C>T	ENSP00000452711.1:n.478-13C>T
ENST00000561441.5:c.703-13C>T	ENSP00000453112.1:n.703-13C>T
NM_001252127.1:c.478-13C>T	NP_001239056.1:n.478-13C>T
NM_007347.4:c.703-13C>T	NP_031373.2:n.703-13C>T
XM_005254264.2:c.478-13C>T	XP_005254321.1:n.478-13C>T
XM_006720447.2:c.478-13C>T	XP_006720510.1:n.478-13C>T
XM_011521408.1:c.523-13C>T	XP_011519710.1:n.523-13C>T
XM_011521409.1:c.-738-13C>T	XP_011519711.1:n.-738-13C>T
XM_005254264.4:c.478-13C>T	XP_005254321.1:n.478-13C>T
XM_006720447.4:c.478-13C>T	XP_006720510.1:n.478-13C>T
XM_017022042.2:c.-268-13C>T	XP_016877531.1:n.-268-13C>T
XR_001751183.1:n.810-13C>T
XR_001751184.1:n.810-13C>T
XR_001751185.1:n.810-13C>T
NM_007347.5:c.703-13C>T MANE Select	NP_031373.2:n.703-13C>T
NM_001252127.2:c.478-13C>T	NP_001239056.1:n.478-13C>T