Canonical Allele Identifier: CA392414619

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50923966C>T , CM000677.2:g.50923966C>T	GRCh38
NC_000015.9:g.51216163C>T , CM000677.1:g.51216163C>T	GRCh37
NC_000015.8:g.49003455C>T	NCBI36
NG_031875.1:g.20295C>T
NG_031875.2:g.20295C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.382C>T MANE Select	NP_031373.2:p.His128Tyr
ENST00000261842.10:c.382C>T MANE Select	ENSP00000261842.5:p.His128Tyr
NM_001252127.1:c.157C>T	NP_001239056.1:p.His53Tyr
NM_001252127.2:c.157C>T	NP_001239056.1:p.His53Tyr
NM_007347.4:c.382C>T	NP_031373.2:p.His128Tyr
ENST00000261842.9:c.382C>T	ENSP00000261842.5:p.His128Tyr
ENST00000558439.5:c.382C>T	ENSP00000452712.1:p.His128Tyr
ENST00000560508.1:c.157C>T	ENSP00000452976.1:p.His53Tyr
ENST00000561393.5:c.157C>T	ENSP00000452711.1:p.His53Tyr
ENST00000561441.5:c.382C>T	ENSP00000453112.1:p.His128Tyr
XM_005254264.2:c.157C>T	XP_005254321.1:p.His53Tyr
XM_005254264.4:c.157C>T	XP_005254321.1:p.His53Tyr
XM_006720447.2:c.157C>T	XP_006720510.1:p.His53Tyr
XM_006720447.4:c.157C>T	XP_006720510.1:p.His53Tyr
XM_011521408.1:c.202C>T	XP_011519710.1:p.His68Tyr
XM_011521409.1:c.-1059C>T	XP_011519711.1:n.-1059C>T
XM_017022042.2:c.-589C>T	XP_016877531.1:n.-589C>T
XR_001751183.1:n.489C>T
XR_001751184.1:n.489C>T
XR_001751185.1:n.489C>T