Canonical Allele Identifier: CA392419908

Gene: AP4E1

Linked Data

• gnomAD v4: 15-50997390-G-C
• MyVariant Identifiers: chr15:g.51289587G>C (hg19) ; chr15:g.50997390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50997390G>C , CM000677.2:g.50997390G>C	GRCh38
NC_000015.9:g.51289587G>C , CM000677.1:g.51289587G>C	GRCh37
NC_000015.8:g.49076879G>C	NCBI36
NG_031875.1:g.93719G>C
NG_031875.2:g.93719G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2411G>C MANE Select	ENSP00000261842.5:p.Ser804Thr
ENST00000261842.9:c.2411G>C	ENSP00000261842.5:p.Ser804Thr
ENST00000558439.5:c.*1535G>C	ENSP00000452712.1:n.*1535G>C
ENST00000560508.1:c.2186G>C	ENSP00000452976.1:p.Ser729Thr
ENST00000561393.5:c.*1455G>C	ENSP00000452711.1:n.*1455G>C
NM_001252127.1:c.2186G>C	NP_001239056.1:p.Ser729Thr
NM_007347.4:c.2411G>C	NP_031373.2:p.Ser804Thr
XM_005254264.2:c.2186G>C	XP_005254321.1:p.Ser729Thr
XM_006720447.2:c.2186G>C	XP_006720510.1:p.Ser729Thr
XM_011521408.1:c.2231G>C	XP_011519710.1:p.Ser744Thr
XM_011521409.1:c.1061G>C	XP_011519711.1:p.Ser354Thr
XM_005254264.4:c.2186G>C	XP_005254321.1:p.Ser729Thr
XM_006720447.4:c.2186G>C	XP_006720510.1:p.Ser729Thr
XM_017022042.2:c.1529G>C	XP_016877531.1:p.Ser510Thr
XR_001751183.1:n.2518G>C
XR_001751184.1:n.2394G>C
NM_007347.5:c.2411G>C MANE Select	NP_031373.2:p.Ser804Thr
NM_001252127.2:c.2186G>C	NP_001239056.1:p.Ser729Thr