Canonical Allele Identifier: CA670552
Community Standard Title: NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21842099G>A , CM000663.2:g.21842099G>A GRCh38
NC_000001.10:g.22168592G>A , CM000663.1:g.22168592G>A GRCh37
NC_000001.9:g.22041179G>A NCBI36
NG_016740.1:g.100159C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.9096C>T MANE Select NP_005520.4:p.Thr3032=
ENST00000374695.8:c.9096C>T MANE Select ENSP00000363827.3:p.Thr3032=
NM_001291860.1:c.9099C>T NP_001278789.1:p.Thr3033=
NM_001291860.2:c.9099C>T NP_001278789.1:p.Thr3033=
NM_005529.6:c.9096C>T NP_005520.4:p.Thr3032=
ENST00000374695.7:c.9096C>T ENSP00000363827.3:p.Thr3032=
XM_006710594.2:c.9642C>T XP_006710657.1:p.Thr3214=
XM_006710595.2:c.9594C>T XP_006710658.1:p.Thr3198=
XM_006710596.2:c.9573C>T XP_006710659.1:p.Thr3191=
XM_006710597.2:c.9096C>T XP_006710660.1:p.Thr3032=
XM_011541317.1:c.9645C>T XP_011539619.1:p.Thr3215=
XM_011541318.1:c.9645C>T XP_011539620.1:p.Thr3215=
XM_011541318.2:c.9645C>T XP_011539620.1:p.Thr3215=
XM_011541319.1:c.9645C>T XP_011539621.1:p.Thr3215=
XM_011541320.1:c.9366C>T XP_011539622.1:p.Thr3122=
XM_011541321.1:c.9150C>T XP_011539623.1:p.Thr3050=
XM_017001120.1:c.9291C>T XP_016856609.1:p.Thr3097=
XM_017001121.1:c.9240C>T XP_016856610.1:p.Thr3080=
XM_017001122.1:c.9237C>T XP_016856611.1:p.Thr3079=