Canonical Allele Identifier: CA16782788

Gene: PUSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1310682T>G , CM000663.2:g.1310682T>G	GRCh38
NC_000001.10:g.1246062T>G , CM000663.1:g.1246062T>G	GRCh37
NC_000001.9:g.1235925T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706602.1:n.507T>G
ENST00000379031.10:c.693T>G MANE Select	ENSP00000368318.5:p.Tyr231Ter
ENST00000379031.9:c.693T>G	ENSP00000368318.5:p.Tyr231Ter
ENST00000467712.1:c.210T>G	ENSP00000462968.1:p.Tyr70Ter
ENST00000470520.5:n.643T>G
ENST00000493657.1:n.1047T>G
NM_153339.1:c.693T>G	NP_699170.1:p.Tyr231Ter
XM_005244720.2:c.668T>G	XP_005244777.1:p.Ile223Arg
XM_006710338.2:c.693T>G	XP_006710401.1:p.Tyr231Ter
XM_006710339.2:c.210T>G	XP_006710402.1:p.Tyr70Ter
XR_241027.2:n.739T>G
NM_001346116.1:c.693T>G	NP_001333045.1:p.Tyr231Ter
NM_153339.2:c.693T>G	NP_699170.1:p.Tyr231Ter
NR_144369.1:n.699T>G
XM_005244720.4:c.668T>G	XP_005244777.1:p.Ile223Arg
XM_024453057.1:c.668T>G	XP_024308825.1:p.Ile223Arg
XR_002959328.1:n.772T>G
XR_241027.4:n.747T>G
NM_153339.3:c.693T>G MANE Select	NP_699170.1:p.Tyr231Ter
NM_001346116.2:c.693T>G	NP_001333045.1:p.Tyr231Ter
NR_144369.2:n.682T>G