Canonical Allele Identifier: CA397716154
Community Standard Title: NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7196320C>A , CM000679.2:g.7196320C>A GRCh38
NC_000017.10:g.7099639C>A , CM000679.1:g.7099639C>A GRCh37
NC_000017.9:g.7040363C>A NCBI36
NG_008391.2:g.28731G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.1201G>T MANE Select NP_001308004.1:p.Glu401Ter
ENST00000399506.9:c.1201G>T MANE Select ENSP00000382425.2:p.Glu401Ter
NM_001128827.1:c.1192G>T NP_001122299.1:p.Glu398Ter
NM_001128827.2:c.1192G>T NP_001122299.1:p.Glu398Ter
NM_001128827.3:c.1192G>T NP_001122299.1:p.Glu398Ter
NM_001128827.4:c.1192G>T NP_001122299.1:p.Glu398Ter
NM_001321074.1:c.1321G>T NP_001308003.1:p.Glu441Ter
NM_001321075.1:c.1201G>T NP_001308004.1:p.Glu401Ter
NM_001321076.1:c.1021G>T NP_001308005.1:p.Glu341Ter
NM_001321076.2:c.1021G>T NP_001308005.1:p.Glu341Ter
NM_001321076.3:c.1021G>T NP_001308005.1:p.Glu341Ter
NM_001321077.1:c.1021G>T NP_001308006.1:p.Glu341Ter
NM_001321077.2:c.1021G>T NP_001308006.1:p.Glu341Ter
NM_001321077.3:c.1021G>T NP_001308006.1:p.Glu341Ter
NM_001365.3:c.1330G>T NP_001356.1:p.Glu444Ter
NM_001365.4:c.1330G>T NP_001356.1:p.Glu444Ter
NM_001369566.2:c.1120G>T NP_001356495.1:p.Glu374Ter
NM_001369566.3:c.1120G>T NP_001356495.1:p.Glu374Ter
NR_135527.1:n.2531G>T
ENST00000302955.10:c.1192G>T ENSP00000307471.6:p.Glu398Ter
ENST00000302955.11:c.1192G>T ENSP00000307471.6:p.Glu398Ter
ENST00000399506.6:c.1201G>T ENSP00000382425.2:p.Glu401Ter
ENST00000399510.6:c.1330G>T ENSP00000382428.2:p.Glu444Ter
ENST00000399510.8:c.1321G>T ENSP00000382428.3:p.Glu441Ter
ENST00000491753.2:c.1330G>T ENSP00000467897.2:p.Glu444Ter
ENST00000648103.1:n.171G>T
ENST00000648103.2:n.1461G>T
ENST00000648172.8:c.1330G>T ENSP00000497806.3:p.Glu444Ter
ENST00000648263.1:c.1021G>T ENSP00000498035.1:p.Glu341Ter
ENST00000648707.1:n.1236G>T
ENST00000648896.1:c.1300G>T ENSP00000497546.1:p.Glu434Ter
ENST00000649186.1:c.1021G>T ENSP00000497879.1:p.Glu341Ter
ENST00000649520.1:c.1021G>T ENSP00000497647.1:p.Glu341Ter
ENST00000649971.1:c.1120G>T ENSP00000497011.1:p.Glu374Ter
ENST00000650120.1:c.1021G>T ENSP00000497553.1:p.Glu341Ter
XM_005256489.2:c.1321G>T XP_005256546.1:p.Glu441Ter
XM_005256491.1:c.1291G>T XP_005256548.1:p.Glu431Ter
XM_005256492.1:c.1201G>T XP_005256549.1:p.Glu401Ter
XM_005256493.3:c.1021G>T XP_005256550.1:p.Glu341Ter
XM_005256494.2:c.1021G>T XP_005256551.1:p.Glu341Ter
XM_011523698.1:c.1420G>T XP_011522000.1:p.Glu474Ter
XM_011523699.1:c.1420G>T XP_011522001.1:p.Glu474Ter
XM_011523699.2:c.1420G>T XP_011522001.1:p.Glu474Ter
XM_011523700.1:c.1213G>T XP_011522002.1:p.Glu405Ter
XM_011523701.1:c.1303G>T XP_011522003.1:p.Glu435Ter
XM_011523702.1:c.1021G>T XP_011522004.1:p.Glu341Ter
XM_017024288.2:c.1135G>T XP_016879777.1:p.Glu379Ter
XM_017024289.2:c.1126G>T XP_016879778.1:p.Glu376Ter
XM_017024290.2:c.1120G>T XP_016879779.1:p.Glu374Ter
XM_024450629.1:c.1186G>T XP_024306397.1:p.Glu396Ter
XR_243545.2:n.2329G>T
XR_934005.1:n.2419G>T
XR_934005.2:n.2413G>T