Canonical Allele Identifier: CA392419909

Gene: AP4E1

Linked Data

• MyVariant Identifiers: chr15:g.51289587G>T (hg19) ; chr15:g.50997390G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261842.10:c.2411G>T MANE Select	ENSP00000261842.5:p.Ser804Ile
ENST00000261842.9:c.2411G>T	ENSP00000261842.5:p.Ser804Ile
ENST00000558439.5:c.*1535G>T	ENSP00000452712.1:n.*1535G>T
ENST00000560508.1:c.2186G>T	ENSP00000452976.1:p.Ser729Ile
ENST00000561393.5:c.*1455G>T	ENSP00000452711.1:n.*1455G>T
NM_001252127.1:c.2186G>T	NP_001239056.1:p.Ser729Ile
NM_007347.4:c.2411G>T	NP_031373.2:p.Ser804Ile
XM_005254264.2:c.2186G>T	XP_005254321.1:p.Ser729Ile
XM_006720447.2:c.2186G>T	XP_006720510.1:p.Ser729Ile
XM_011521408.1:c.2231G>T	XP_011519710.1:p.Ser744Ile
XM_011521409.1:c.1061G>T	XP_011519711.1:p.Ser354Ile
XM_005254264.4:c.2186G>T	XP_005254321.1:p.Ser729Ile
XM_006720447.4:c.2186G>T	XP_006720510.1:p.Ser729Ile
XM_017022042.2:c.1529G>T	XP_016877531.1:p.Ser510Ile
XR_001751183.1:n.2518G>T
XR_001751184.1:n.2394G>T
NM_007347.5:c.2411G>T MANE Select	NP_031373.2:p.Ser804Ile
NM_001252127.2:c.2186G>T	NP_001239056.1:p.Ser729Ile