Canonical Allele Identifier: CA669663
Community Standard Title: NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21830051G>A , CM000663.2:g.21830051G>A GRCh38
NC_000001.10:g.22156544G>A , CM000663.1:g.22156544G>A GRCh37
NC_000001.9:g.22029131G>A NCBI36
NG_016740.1:g.112207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.11712C>T MANE Select NP_005520.4:p.Asp3904=
ENST00000374695.8:c.11712C>T MANE Select ENSP00000363827.3:p.Asp3904=
NM_001291860.1:c.11715C>T NP_001278789.1:p.Asp3905=
NM_001291860.2:c.11715C>T NP_001278789.1:p.Asp3905=
NM_005529.6:c.11712C>T NP_005520.4:p.Asp3904=
ENST00000374695.7:c.11712C>T ENSP00000363827.3:p.Asp3904=
ENST00000486901.1:n.663C>T
ENST00000635682.1:c.863C>T
XM_006710594.2:c.12276C>T XP_006710657.1:p.Asp4092=
XM_006710595.2:c.12228C>T XP_006710658.1:p.Asp4076=
XM_006710596.2:c.12207C>T XP_006710659.1:p.Asp4069=
XM_006710597.2:c.11730C>T XP_006710660.1:p.Asp3910=
XM_011541317.1:c.12279C>T XP_011539619.1:p.Asp4093=
XM_011541318.1:c.12261C>T XP_011539620.1:p.Asp4087=
XM_011541318.2:c.12261C>T XP_011539620.1:p.Asp4087=
XM_011541319.1:c.12279C>T XP_011539621.1:p.Asp4093=
XM_011541320.1:c.12000C>T XP_011539622.1:p.Asp4000=
XM_011541321.1:c.11784C>T XP_011539623.1:p.Asp3928=
XM_017001120.1:c.11907C>T XP_016856609.1:p.Asp3969=
XM_017001121.1:c.11856C>T XP_016856610.1:p.Asp3952=
XM_017001122.1:c.11853C>T XP_016856611.1:p.Asp3951=