Canonical Allele Identifier: CA669698
Community Standard Title: NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21831004C>T , CM000663.2:g.21831004C>T GRCh38
NC_000001.10:g.22157497C>T , CM000663.1:g.22157497C>T GRCh37
NC_000001.9:g.22030084C>T NCBI36
NG_016740.1:g.111254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.11649G>A MANE Select NP_005520.4:p.Ser3883=
ENST00000374695.8:c.11649G>A MANE Select ENSP00000363827.3:p.Ser3883=
NM_001291860.1:c.11652G>A NP_001278789.1:p.Ser3884=
NM_001291860.2:c.11652G>A NP_001278789.1:p.Ser3884=
NM_005529.6:c.11649G>A NP_005520.4:p.Ser3883=
ENST00000374695.7:c.11649G>A ENSP00000363827.3:p.Ser3883=
ENST00000635682.1:c.800G>A
XM_006710594.2:c.12213G>A XP_006710657.1:p.Ser4071=
XM_006710595.2:c.12165G>A XP_006710658.1:p.Ser4055=
XM_006710596.2:c.12144G>A XP_006710659.1:p.Ser4048=
XM_006710597.2:c.11667G>A XP_006710660.1:p.Ser3889=
XM_011541317.1:c.12216G>A XP_011539619.1:p.Ser4072=
XM_011541318.1:c.12198G>A XP_011539620.1:p.Ser4066=
XM_011541318.2:c.12198G>A XP_011539620.1:p.Ser4066=
XM_011541319.1:c.12216G>A XP_011539621.1:p.Ser4072=
XM_011541320.1:c.11937G>A XP_011539622.1:p.Ser3979=
XM_011541321.1:c.11721G>A XP_011539623.1:p.Ser3907=
XM_017001120.1:c.11844G>A XP_016856609.1:p.Ser3948=
XM_017001121.1:c.11793G>A XP_016856610.1:p.Ser3931=
XM_017001122.1:c.11790G>A XP_016856611.1:p.Ser3930=