Canonical Allele Identifier: CA392419773

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289527G>C (hg19) ; chr15:g.50997330G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997330G>C , CM000677.2:g.50997330G>C	GRCh38
NC_000015.9:g.51289527G>C , CM000677.1:g.51289527G>C	GRCh37
NC_000015.8:g.49076819G>C	NCBI36
NG_031875.1:g.93659G>C
NG_031875.2:g.93659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261842.10:c.2351G>C MANE Select	ENSP00000261842.5:p.Gly784Ala
ENST00000261842.9:c.2351G>C	ENSP00000261842.5:p.Gly784Ala
ENST00000558439.5:c.*1475G>C	ENSP00000452712.1:n.*1475G>C
ENST00000560508.1:c.2126G>C	ENSP00000452976.1:p.Gly709Ala
ENST00000561393.5:c.*1395G>C	ENSP00000452711.1:n.*1395G>C
NM_001252127.1:c.2126G>C	NP_001239056.1:p.Gly709Ala
NM_007347.4:c.2351G>C	NP_031373.2:p.Gly784Ala
XM_005254264.2:c.2126G>C	XP_005254321.1:p.Gly709Ala
XM_006720447.2:c.2126G>C	XP_006720510.1:p.Gly709Ala
XM_011521408.1:c.2171G>C	XP_011519710.1:p.Gly724Ala
XM_011521409.1:c.1001G>C	XP_011519711.1:p.Gly334Ala
XM_005254264.4:c.2126G>C	XP_005254321.1:p.Gly709Ala
XM_006720447.4:c.2126G>C	XP_006720510.1:p.Gly709Ala
XM_017022042.2:c.1469G>C	XP_016877531.1:p.Gly490Ala
XR_001751183.1:n.2458G>C
XR_001751184.1:n.2334G>C
NM_007347.5:c.2351G>C MANE Select	NP_031373.2:p.Gly784Ala
NM_001252127.2:c.2126G>C	NP_001239056.1:p.Gly709Ala