Canonical Allele Identifier: CA16781030
Gene: PUSL1 HGNC NCBI

Linked Data

dbSNP Id: rs144003672
gnomAD v4: 1-1309724-C-A
COSMIC: COSM110401

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1309724C>A , CM000663.2:g.1309724C>A GRCh38
NC_000001.10:g.1245104C>A , CM000663.1:g.1245104C>A GRCh37
NC_000001.9:g.1234967C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000706601.1:n.271C>A
ENST00000379031.10:c.517C>A MANE Select ENSP00000368318.5:p.Leu173Ile
ENST00000379031.9:c.517C>A ENSP00000368318.5:p.Leu173Ile
ENST00000463758.1:n.824C>A
ENST00000467712.1:c.34C>A ENSP00000462968.1:p.Leu12Ile
ENST00000470520.5:n.467C>A
ENST00000493657.1:n.310C>A
NM_153339.1:c.517C>A NP_699170.1:p.Leu173Ile
XM_005244720.2:c.492C>A XP_005244777.1:p.Ser164=
XM_006710338.2:c.517C>A XP_006710401.1:p.Leu173Ile
XM_006710339.2:c.34C>A XP_006710402.1:p.Leu12Ile
XR_241027.2:n.563C>A
NM_001346116.1:c.517C>A NP_001333045.1:p.Leu173Ile
NM_153339.2:c.517C>A NP_699170.1:p.Leu173Ile
NR_144369.1:n.523C>A
XM_005244720.4:c.492C>A XP_005244777.1:p.Ser164=
XM_024453057.1:c.492C>A XP_024308825.1:p.Ser164=
XR_002959328.1:n.596C>A
XR_241027.4:n.571C>A
NM_153339.3:c.517C>A MANE Select NP_699170.1:p.Leu173Ile
NM_001346116.2:c.517C>A NP_001333045.1:p.Leu173Ile
NR_144369.2:n.506C>A