Canonical Allele Identifier: CA392419916

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289590G>C (hg19) ; chr15:g.50997393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997393G>C , CM000677.2:g.50997393G>C	GRCh38
NC_000015.9:g.51289590G>C , CM000677.1:g.51289590G>C	GRCh37
NC_000015.8:g.49076882G>C	NCBI36
NG_031875.1:g.93722G>C
NG_031875.2:g.93722G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2414G>C MANE Select	ENSP00000261842.5:p.Gly805Ala
ENST00000261842.9:c.2414G>C	ENSP00000261842.5:p.Gly805Ala
ENST00000558439.5:c.*1538G>C	ENSP00000452712.1:n.*1538G>C
ENST00000560508.1:c.2189G>C	ENSP00000452976.1:p.Gly730Ala
ENST00000561393.5:c.*1458G>C	ENSP00000452711.1:n.*1458G>C
NM_001252127.1:c.2189G>C	NP_001239056.1:p.Gly730Ala
NM_007347.4:c.2414G>C	NP_031373.2:p.Gly805Ala
XM_005254264.2:c.2189G>C	XP_005254321.1:p.Gly730Ala
XM_006720447.2:c.2189G>C	XP_006720510.1:p.Gly730Ala
XM_011521408.1:c.2234G>C	XP_011519710.1:p.Gly745Ala
XM_011521409.1:c.1064G>C	XP_011519711.1:p.Gly355Ala
XM_005254264.4:c.2189G>C	XP_005254321.1:p.Gly730Ala
XM_006720447.4:c.2189G>C	XP_006720510.1:p.Gly730Ala
XM_017022042.2:c.1532G>C	XP_016877531.1:p.Gly511Ala
XR_001751183.1:n.2521G>C
XR_001751184.1:n.2397G>C
NM_007347.5:c.2414G>C MANE Select	NP_031373.2:p.Gly805Ala
NM_001252127.2:c.2189G>C	NP_001239056.1:p.Gly730Ala