Canonical Allele Identifier: CA338913987

Gene: HSPG2

Linked Data

• MyVariant Identifiers: chr1:g.22167607T>A (hg19) ; chr1:g.21841114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841114T>A , CM000663.2:g.21841114T>A	GRCh38
NC_000001.10:g.22167607T>A , CM000663.1:g.22167607T>A	GRCh37
NC_000001.9:g.22040194T>A	NCBI36
NG_016740.1:g.101144A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.9500A>T MANE Select	ENSP00000363827.3:p.His3167Leu
ENST00000374695.7:c.9500A>T	ENSP00000363827.3:p.His3167Leu
NM_001291860.1:c.9503A>T	NP_001278789.1:p.His3168Leu
NM_005529.6:c.9500A>T	NP_005520.4:p.His3167Leu
XM_006710594.2:c.10046A>T	XP_006710657.1:p.His3349Leu
XM_006710595.2:c.9998A>T	XP_006710658.1:p.His3333Leu
XM_006710596.2:c.9977A>T	XP_006710659.1:p.His3326Leu
XM_006710597.2:c.9500A>T	XP_006710660.1:p.His3167Leu
XM_011541317.1:c.10049A>T	XP_011539619.1:p.His3350Leu
XM_011541318.1:c.10049A>T	XP_011539620.1:p.His3350Leu
XM_011541319.1:c.10049A>T	XP_011539621.1:p.His3350Leu
XM_011541320.1:c.9770A>T	XP_011539622.1:p.His3257Leu
XM_011541321.1:c.9554A>T	XP_011539623.1:p.His3185Leu
XM_011541318.2:c.10049A>T	XP_011539620.1:p.His3350Leu
XM_017001120.1:c.9695A>T	XP_016856609.1:p.His3232Leu
XM_017001121.1:c.9644A>T	XP_016856610.1:p.His3215Leu
XM_017001122.1:c.9641A>T	XP_016856611.1:p.His3214Leu
NM_005529.7:c.9500A>T MANE Select	NP_005520.4:p.His3167Leu
NM_001291860.2:c.9503A>T	NP_001278789.1:p.His3168Leu