Canonical Allele Identifier: CA397715194

Gene: DLG4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7193578T>C , CM000679.2:g.7193578T>C	GRCh38
NC_000017.10:g.7096897T>C , CM000679.1:g.7096897T>C	GRCh37
NC_000017.9:g.7037621T>C	NCBI36
NG_008391.2:g.31473A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001321075.3:c.1598A>G MANE Select	NP_001308004.1:p.Tyr533Cys
ENST00000399506.9:c.1598A>G MANE Select	ENSP00000382425.2:p.Tyr533Cys
NM_001128827.1:c.1589A>G	NP_001122299.1:p.Tyr530Cys
NM_001128827.2:c.1589A>G	NP_001122299.1:p.Tyr530Cys
NM_001128827.3:c.1589A>G	NP_001122299.1:p.Tyr530Cys
NM_001128827.4:c.1589A>G	NP_001122299.1:p.Tyr530Cys
NM_001321074.1:c.1718A>G	NP_001308003.1:p.Tyr573Cys
NM_001321075.1:c.1598A>G	NP_001308004.1:p.Tyr533Cys
NM_001321076.1:c.1418A>G	NP_001308005.1:p.Tyr473Cys
NM_001321076.2:c.1418A>G	NP_001308005.1:p.Tyr473Cys
NM_001321076.3:c.1418A>G	NP_001308005.1:p.Tyr473Cys
NM_001321077.1:c.1418A>G	NP_001308006.1:p.Tyr473Cys
NM_001321077.2:c.1418A>G	NP_001308006.1:p.Tyr473Cys
NM_001321077.3:c.1418A>G	NP_001308006.1:p.Tyr473Cys
NM_001365.3:c.1727A>G	NP_001356.1:p.Tyr576Cys
NM_001365.4:c.1727A>G	NP_001356.1:p.Tyr576Cys
NM_001369566.2:c.1517A>G	NP_001356495.1:p.Tyr506Cys
NM_001369566.3:c.1517A>G	NP_001356495.1:p.Tyr506Cys
NR_135527.1:n.2928A>G
ENST00000302955.10:c.1589A>G	ENSP00000307471.6:p.Tyr530Cys
ENST00000302955.11:c.1589A>G	ENSP00000307471.6:p.Tyr530Cys
ENST00000399506.6:c.1598A>G	ENSP00000382425.2:p.Tyr533Cys
ENST00000399510.6:c.1727A>G	ENSP00000382428.2:p.Tyr576Cys
ENST00000399510.8:c.1718A>G	ENSP00000382428.3:p.Tyr573Cys
ENST00000491753.2:c.1727A>G	ENSP00000467897.2:p.Tyr576Cys
ENST00000648103.1:n.886A>G
ENST00000648103.2:n.2176A>G
ENST00000648172.8:c.1727A>G	ENSP00000497806.3:p.Tyr576Cys
ENST00000648263.1:c.1418A>G	ENSP00000498035.1:p.Tyr473Cys
ENST00000648707.1:n.1633A>G
ENST00000648896.1:c.1697A>G	ENSP00000497546.1:p.Tyr566Cys
ENST00000649186.1:c.1418A>G	ENSP00000497879.1:p.Tyr473Cys
ENST00000649520.1:c.1418A>G	ENSP00000497647.1:p.Tyr473Cys
ENST00000649971.1:c.1517A>G	ENSP00000497011.1:p.Tyr506Cys
ENST00000650120.1:c.1418A>G	ENSP00000497553.1:p.Tyr473Cys
XM_005256489.2:c.1718A>G	XP_005256546.1:p.Tyr573Cys
XM_005256491.1:c.1688A>G	XP_005256548.1:p.Tyr563Cys
XM_005256492.1:c.1598A>G	XP_005256549.1:p.Tyr533Cys
XM_005256493.3:c.1418A>G	XP_005256550.1:p.Tyr473Cys
XM_005256494.2:c.1418A>G	XP_005256551.1:p.Tyr473Cys
XM_011523698.1:c.1817A>G	XP_011522000.1:p.Tyr606Cys
XM_011523699.1:c.1817A>G	XP_011522001.1:p.Tyr606Cys
XM_011523699.2:c.1817A>G	XP_011522001.1:p.Tyr606Cys
XM_011523700.1:c.1610A>G	XP_011522002.1:p.Tyr537Cys
XM_011523701.1:c.1700A>G	XP_011522003.1:p.Tyr567Cys
XM_011523702.1:c.1418A>G	XP_011522004.1:p.Tyr473Cys
XM_017024288.2:c.1532A>G	XP_016879777.1:p.Tyr511Cys
XM_017024289.2:c.1523A>G	XP_016879778.1:p.Tyr508Cys
XM_017024290.2:c.1517A>G	XP_016879779.1:p.Tyr506Cys
XM_024450629.1:c.1583A>G	XP_024306397.1:p.Tyr528Cys
XR_243545.2:n.2726A>G
XR_934005.1:n.2816A>G
XR_934005.2:n.2810A>G