Canonical Allele Identifier: CA669596

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21829512C>G , CM000663.2:g.21829512C>G	GRCh38
NC_000001.10:g.22156005C>G , CM000663.1:g.22156005C>G	GRCh37
NC_000001.9:g.22028592C>G	NCBI36
NG_016740.1:g.112746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.11863G>C MANE Select	ENSP00000363827.3:p.Val3955Leu
ENST00000374695.7:c.11863G>C	ENSP00000363827.3:p.Val3955Leu
ENST00000486901.1:n.1202G>C
NM_001291860.1:c.11866G>C	NP_001278789.1:p.Val3956Leu
NM_005529.6:c.11863G>C	NP_005520.4:p.Val3955Leu
XM_006710594.2:c.12427G>C	XP_006710657.1:p.Val4143Leu
XM_006710595.2:c.12379G>C	XP_006710658.1:p.Val4127Leu
XM_006710596.2:c.12358G>C	XP_006710659.1:p.Val4120Leu
XM_006710597.2:c.11881G>C	XP_006710660.1:p.Val3961Leu
XM_011541317.1:c.12430G>C	XP_011539619.1:p.Val4144Leu
XM_011541318.1:c.12412G>C	XP_011539620.1:p.Val4138Leu
XM_011541319.1:c.12430G>C	XP_011539621.1:p.Val4144Leu
XM_011541320.1:c.12151G>C	XP_011539622.1:p.Val4051Leu
XM_011541321.1:c.11935G>C	XP_011539623.1:p.Val3979Leu
XM_011541318.2:c.12412G>C	XP_011539620.1:p.Val4138Leu
XM_017001120.1:c.12058G>C	XP_016856609.1:p.Val4020Leu
XM_017001121.1:c.12007G>C	XP_016856610.1:p.Val4003Leu
XM_017001122.1:c.12004G>C	XP_016856611.1:p.Val4002Leu
NM_005529.7:c.11863G>C MANE Select	NP_005520.4:p.Val3955Leu
NM_001291860.2:c.11866G>C	NP_001278789.1:p.Val3956Leu