Canonical Allele Identifier: CA669518

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21828962C>A , CM000663.2:g.21828962C>A	GRCh38
NC_000001.10:g.22155455C>A , CM000663.1:g.22155455C>A	GRCh37
NC_000001.9:g.22028042C>A	NCBI36
NG_016740.1:g.113296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.12110G>T MANE Select	ENSP00000363827.3:p.Arg4037Leu
ENST00000374695.7:c.12110G>T	ENSP00000363827.3:p.Arg4037Leu
ENST00000486901.1:n.1449G>T
NM_001291860.1:c.12113G>T	NP_001278789.1:p.Arg4038Leu
NM_005529.6:c.12110G>T	NP_005520.4:p.Arg4037Leu
XM_006710594.2:c.12674G>T	XP_006710657.1:p.Arg4225Leu
XM_006710595.2:c.12626G>T	XP_006710658.1:p.Arg4209Leu
XM_006710596.2:c.12605G>T	XP_006710659.1:p.Arg4202Leu
XM_006710597.2:c.12128G>T	XP_006710660.1:p.Arg4043Leu
XM_011541317.1:c.12677G>T	XP_011539619.1:p.Arg4226Leu
XM_011541318.1:c.12659G>T	XP_011539620.1:p.Arg4220Leu
XM_011541319.1:c.12677G>T	XP_011539621.1:p.Arg4226Leu
XM_011541320.1:c.12398G>T	XP_011539622.1:p.Arg4133Leu
XM_011541321.1:c.12182G>T	XP_011539623.1:p.Arg4061Leu
XM_011541318.2:c.12659G>T	XP_011539620.1:p.Arg4220Leu
XM_017001120.1:c.12305G>T	XP_016856609.1:p.Arg4102Leu
XM_017001121.1:c.12254G>T	XP_016856610.1:p.Arg4085Leu
XM_017001122.1:c.12251G>T	XP_016856611.1:p.Arg4084Leu
NM_005529.7:c.12110G>T MANE Select	NP_005520.4:p.Arg4037Leu
NM_001291860.2:c.12113G>T	NP_001278789.1:p.Arg4038Leu