Canonical Allele Identifier: CA2838207579

Gene: GPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240465302C>G , CM000664.2:g.240465302C>G	GRCh38
NC_000002.11:g.241404719C>G , CM000664.1:g.241404719C>G	GRCh37
NC_000002.10:g.241053392C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264039.7:c.1268+92C>G MANE Select	ENSP00000264039.2:n.1268+92C>G
ENST00000264039.6:c.1268+92C>G	ENSP00000264039.2:n.1268+92C>G
ENST00000420138.5:c.1052+92C>G	ENSP00000415077.2:n.1052+92C>G
ENST00000455111.1:c.522+92C>G
ENST00000469694.5:n.2385+92C>G
ENST00000495100.1:n.3048+92C>G
NM_002081.2:c.1268+92C>G	NP_002072.2:n.1268+92C>G
XM_011510976.1:c.1052+92C>G	XP_011509278.1:n.1052+92C>G
XM_011510976.2:c.1052+92C>G	XP_011509278.1:n.1052+92C>G
NM_002081.3:c.1268+92C>G MANE Select	NP_002072.2:n.1268+92C>G