Canonical Allele Identifier: CA7559412

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50999099C>T , CM000677.2:g.50999099C>T	GRCh38
NC_000015.9:g.51291296C>T , CM000677.1:g.51291296C>T	GRCh37
NC_000015.8:g.49078588C>T	NCBI36
NG_031875.1:g.95428C>T
NG_031875.2:g.95428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.2932C>T MANE Select	NP_031373.2:p.Pro978Ser
ENST00000261842.10:c.2932C>T MANE Select	ENSP00000261842.5:p.Pro978Ser
NM_001252127.1:c.2707C>T	NP_001239056.1:p.Pro903Ser
NM_001252127.2:c.2707C>T	NP_001239056.1:p.Pro903Ser
NM_007347.4:c.2932C>T	NP_031373.2:p.Pro978Ser
ENST00000261842.9:c.2932C>T	ENSP00000261842.5:p.Pro978Ser
ENST00000558439.5:c.*2056C>T	ENSP00000452712.1:n.*2056C>T
ENST00000560508.1:c.2707C>T	ENSP00000452976.1:p.Pro903Ser
ENST00000561393.5:c.*1976C>T	ENSP00000452711.1:n.*1976C>T
ENST00000561397.1:n.135+1216C>T
XM_005254264.2:c.2707C>T	XP_005254321.1:p.Pro903Ser
XM_005254264.4:c.2707C>T	XP_005254321.1:p.Pro903Ser
XM_006720447.2:c.2707C>T	XP_006720510.1:p.Pro903Ser
XM_006720447.4:c.2707C>T	XP_006720510.1:p.Pro903Ser
XM_011521408.1:c.2752C>T	XP_011519710.1:p.Pro918Ser
XM_011521409.1:c.1582C>T	XP_011519711.1:p.Pro528Ser
XM_017022042.2:c.2050C>T	XP_016877531.1:p.Pro684Ser
XR_001751183.1:n.3011+1216C>T
XR_001751184.1:n.2915C>T