Canonical Allele Identifier: CA672173
Community Standard Title: NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21862107C>T , CM000663.2:g.21862107C>T GRCh38
NC_000001.10:g.22188600C>T , CM000663.1:g.22188600C>T GRCh37
NC_000001.9:g.22061187C>T NCBI36
NG_016740.1:g.80151G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.4749G>A MANE Select NP_005520.4:p.Gln1583=
ENST00000374695.8:c.4749G>A MANE Select ENSP00000363827.3:p.Gln1583=
NM_001291860.1:c.4752G>A NP_001278789.1:p.Gln1584=
NM_001291860.2:c.4752G>A NP_001278789.1:p.Gln1584=
NM_005529.6:c.4749G>A NP_005520.4:p.Gln1583=
ENST00000374695.7:c.4749G>A ENSP00000363827.3:p.Gln1583=
XM_006710594.2:c.5295G>A XP_006710657.1:p.Gln1765=
XM_006710595.2:c.5247G>A XP_006710658.1:p.Gln1749=
XM_006710596.2:c.5226G>A XP_006710659.1:p.Gln1742=
XM_006710597.2:c.4749G>A XP_006710660.1:p.Gln1583=
XM_011541317.1:c.5298G>A XP_011539619.1:p.Gln1766=
XM_011541318.1:c.5298G>A XP_011539620.1:p.Gln1766=
XM_011541318.2:c.5298G>A XP_011539620.1:p.Gln1766=
XM_011541319.1:c.5298G>A XP_011539621.1:p.Gln1766=
XM_011541320.1:c.5298G>A XP_011539622.1:p.Gln1766=
XM_011541321.1:c.4803G>A XP_011539623.1:p.Gln1601=
XM_011541322.1:c.5298G>A XP_011539624.1:p.Gln1766=
XM_017001120.1:c.4944G>A XP_016856609.1:p.Gln1648=
XM_017001121.1:c.4893G>A XP_016856610.1:p.Gln1631=
XM_017001122.1:c.4890G>A XP_016856611.1:p.Gln1630=