Canonical Allele Identifier: CA392417650

Gene: AP4E1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50949824A>C , CM000677.2:g.50949824A>C	GRCh38
NC_000015.9:g.51242021A>C , CM000677.1:g.51242021A>C	GRCh37
NC_000015.8:g.49029313A>C	NCBI36
NG_031875.1:g.46153A>C
NG_031875.2:g.46153A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007347.5:c.1317-2A>C MANE Select	NP_031373.2:n.1317-2A>C
ENST00000261842.10:c.1317-2A>C MANE Select	ENSP00000261842.5:n.1317-2A>C
NM_001252127.1:c.1092-2A>C	NP_001239056.1:n.1092-2A>C
NM_001252127.2:c.1092-2A>C	NP_001239056.1:n.1092-2A>C
NM_007347.4:c.1317-2A>C	NP_031373.2:n.1317-2A>C
ENST00000261842.9:c.1317-2A>C	ENSP00000261842.5:n.1317-2A>C
ENST00000558439.5:c.*439A>C	ENSP00000452712.1:n.*439A>C
ENST00000560508.1:c.1092-2A>C	ENSP00000452976.1:n.1092-2A>C
ENST00000561393.5:c.*361-2A>C	ENSP00000452711.1:n.*361-2A>C
ENST00000561441.5:c.*178-2A>C	ENSP00000453112.1:n.*178-2A>C
XM_005254264.2:c.1092-2A>C	XP_005254321.1:n.1092-2A>C
XM_005254264.4:c.1092-2A>C	XP_005254321.1:n.1092-2A>C
XM_006720447.2:c.1092-2A>C	XP_006720510.1:n.1092-2A>C
XM_006720447.4:c.1092-2A>C	XP_006720510.1:n.1092-2A>C
XM_011521408.1:c.1137-2A>C	XP_011519710.1:n.1137-2A>C
XM_011521409.1:c.-36A>C	XP_011519711.1:n.-36A>C
XM_017022042.2:c.435-2A>C	XP_016877531.1:n.435-2A>C
XR_001751183.1:n.1424-2A>C
XR_001751184.1:n.1424-2A>C
XR_001751185.1:n.1424A>C