Canonical Allele Identifier: CA669952
Community Standard Title: NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21833362C>T , CM000663.2:g.21833362C>T GRCh38
NC_000001.10:g.22159855C>T , CM000663.1:g.22159855C>T GRCh37
NC_000001.9:g.22032442C>T NCBI36
NG_016740.1:g.108896G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.11001G>A MANE Select NP_005520.4:p.Thr3667=
ENST00000374695.8:c.11001G>A MANE Select ENSP00000363827.3:p.Thr3667=
NM_001291860.1:c.11004G>A NP_001278789.1:p.Thr3668=
NM_001291860.2:c.11004G>A NP_001278789.1:p.Thr3668=
NM_005529.6:c.11001G>A NP_005520.4:p.Thr3667=
ENST00000374695.7:c.11001G>A ENSP00000363827.3:p.Thr3667=
ENST00000471322.2:n.1356G>A
ENST00000635682.1:c.134G>A
XM_006710594.2:c.11547G>A XP_006710657.1:p.Thr3849=
XM_006710595.2:c.11499G>A XP_006710658.1:p.Thr3833=
XM_006710596.2:c.11478G>A XP_006710659.1:p.Thr3826=
XM_006710597.2:c.11001G>A XP_006710660.1:p.Thr3667=
XM_011541317.1:c.11550G>A XP_011539619.1:p.Thr3850=
XM_011541318.1:c.11550G>A XP_011539620.1:p.Thr3850=
XM_011541318.2:c.11550G>A XP_011539620.1:p.Thr3850=
XM_011541319.1:c.11550G>A XP_011539621.1:p.Thr3850=
XM_011541320.1:c.11271G>A XP_011539622.1:p.Thr3757=
XM_011541321.1:c.11055G>A XP_011539623.1:p.Thr3685=
XM_017001120.1:c.11196G>A XP_016856609.1:p.Thr3732=
XM_017001121.1:c.11145G>A XP_016856610.1:p.Thr3715=
XM_017001122.1:c.11142G>A XP_016856611.1:p.Thr3714=