Canonical Allele Identifier: CA338954932

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21864961G>T , CM000663.2:g.21864961G>T	GRCh38
NC_000001.10:g.22191454G>T , CM000663.1:g.22191454G>T	GRCh37
NC_000001.9:g.22064041G>T	NCBI36
NG_016740.1:g.77297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4508C>A MANE Select	ENSP00000363827.3:p.Ala1503Glu
ENST00000374695.7:c.4508C>A	ENSP00000363827.3:p.Ala1503Glu
NM_001291860.1:c.4511C>A	NP_001278789.1:p.Ala1504Glu
NM_005529.6:c.4508C>A	NP_005520.4:p.Ala1503Glu
XM_006710594.2:c.5054C>A	XP_006710657.1:p.Ala1685Glu
XM_006710595.2:c.5006C>A	XP_006710658.1:p.Ala1669Glu
XM_006710596.2:c.4985C>A	XP_006710659.1:p.Ala1662Glu
XM_006710597.2:c.4508C>A	XP_006710660.1:p.Ala1503Glu
XM_011541317.1:c.5057C>A	XP_011539619.1:p.Ala1686Glu
XM_011541318.1:c.5057C>A	XP_011539620.1:p.Ala1686Glu
XM_011541319.1:c.5057C>A	XP_011539621.1:p.Ala1686Glu
XM_011541320.1:c.5057C>A	XP_011539622.1:p.Ala1686Glu
XM_011541321.1:c.4562C>A	XP_011539623.1:p.Ala1521Glu
XM_011541322.1:c.5057C>A	XP_011539624.1:p.Ala1686Glu
XM_011541318.2:c.5057C>A	XP_011539620.1:p.Ala1686Glu
XM_017001120.1:c.4703C>A	XP_016856609.1:p.Ala1568Glu
XM_017001121.1:c.4652C>A	XP_016856610.1:p.Ala1551Glu
XM_017001122.1:c.4649C>A	XP_016856611.1:p.Ala1550Glu
NM_005529.7:c.4508C>A MANE Select	NP_005520.4:p.Ala1503Glu
NM_001291860.2:c.4511C>A	NP_001278789.1:p.Ala1504Glu