Canonical Allele Identifier: CA397714934
Community Standard Title: NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7193100G>A , CM000679.2:g.7193100G>A GRCh38
NC_000017.10:g.7096419G>A , CM000679.1:g.7096419G>A GRCh37
NC_000017.9:g.7037143G>A NCBI36
NG_008391.2:g.31951C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.1711C>T MANE Select NP_001308004.1:p.Arg571Trp
ENST00000399506.9:c.1711C>T MANE Select ENSP00000382425.2:p.Arg571Trp
NM_001128827.1:c.1702C>T NP_001122299.1:p.Arg568Trp
NM_001128827.2:c.1702C>T NP_001122299.1:p.Arg568Trp
NM_001128827.3:c.1702C>T NP_001122299.1:p.Arg568Trp
NM_001128827.4:c.1702C>T NP_001122299.1:p.Arg568Trp
NM_001321074.1:c.1831C>T NP_001308003.1:p.Arg611Trp
NM_001321075.1:c.1711C>T NP_001308004.1:p.Arg571Trp
NM_001321076.1:c.1531C>T NP_001308005.1:p.Arg511Trp
NM_001321076.2:c.1531C>T NP_001308005.1:p.Arg511Trp
NM_001321076.3:c.1531C>T NP_001308005.1:p.Arg511Trp
NM_001321077.1:c.1531C>T NP_001308006.1:p.Arg511Trp
NM_001321077.2:c.1531C>T NP_001308006.1:p.Arg511Trp
NM_001321077.3:c.1531C>T NP_001308006.1:p.Arg511Trp
NM_001365.3:c.1840C>T NP_001356.1:p.Arg614Trp
NM_001365.4:c.1840C>T NP_001356.1:p.Arg614Trp
NM_001369566.2:c.1630C>T NP_001356495.1:p.Arg544Trp
NM_001369566.3:c.1630C>T NP_001356495.1:p.Arg544Trp
NR_135527.1:n.3041C>T
ENST00000302955.10:c.1702C>T ENSP00000307471.6:p.Arg568Trp
ENST00000302955.11:c.1702C>T ENSP00000307471.6:p.Arg568Trp
ENST00000399506.6:c.1711C>T ENSP00000382425.2:p.Arg571Trp
ENST00000399510.6:c.1840C>T ENSP00000382428.2:p.Arg614Trp
ENST00000399510.8:c.1831C>T ENSP00000382428.3:p.Arg611Trp
ENST00000491753.1:c.93C>T
ENST00000491753.2:c.1840C>T ENSP00000467897.2:p.Arg614Trp
ENST00000648103.1:n.999C>T
ENST00000648103.2:n.2289C>T
ENST00000648172.8:c.1840C>T ENSP00000497806.3:p.Arg614Trp
ENST00000648707.1:n.1746C>T
ENST00000648896.1:c.1810C>T ENSP00000497546.1:p.Arg604Trp
ENST00000649186.1:c.1531C>T ENSP00000497879.1:p.Arg511Trp
ENST00000649520.1:c.1531C>T ENSP00000497647.1:p.Arg511Trp
ENST00000649971.1:c.1630C>T ENSP00000497011.1:p.Arg544Trp
ENST00000650120.1:c.1531C>T ENSP00000497553.1:p.Arg511Trp
XM_005256489.2:c.1831C>T XP_005256546.1:p.Arg611Trp
XM_005256491.1:c.1801C>T XP_005256548.1:p.Arg601Trp
XM_005256492.1:c.1711C>T XP_005256549.1:p.Arg571Trp
XM_005256493.3:c.1531C>T XP_005256550.1:p.Arg511Trp
XM_005256494.2:c.1531C>T XP_005256551.1:p.Arg511Trp
XM_011523698.1:c.1930C>T XP_011522000.1:p.Arg644Trp
XM_011523699.1:c.1930C>T XP_011522001.1:p.Arg644Trp
XM_011523699.2:c.1930C>T XP_011522001.1:p.Arg644Trp
XM_011523700.1:c.1723C>T XP_011522002.1:p.Arg575Trp
XM_011523701.1:c.1813C>T XP_011522003.1:p.Arg605Trp
XM_011523702.1:c.1531C>T XP_011522004.1:p.Arg511Trp
XM_017024288.2:c.1645C>T XP_016879777.1:p.Arg549Trp
XM_017024289.2:c.1636C>T XP_016879778.1:p.Arg546Trp
XM_017024290.2:c.1630C>T XP_016879779.1:p.Arg544Trp
XM_024450629.1:c.1696C>T XP_024306397.1:p.Arg566Trp
XR_243545.2:n.2839C>T
XR_934005.1:n.2929C>T
XR_934005.2:n.2923C>T