Canonical Allele Identifier: CA2202723
Gene: GPC1 HGNC NCBI
GPC1-AS1 HGNC NCBI
MIR149 HGNC NCBI
COSMIC:
COSN6681935 (not active)
MyVariant.info:
GRCh38 chr2:g.240456086T>C
GRCh37 chr2:g.241395503T>C
gnomAD v2:
2:241395503 T / C
gnomAD v3:
2:240456086 T / C
gnomAD v4:
chr2-240456086-T-C
Joint Max Group AF 0.70270027 (AFR)
Genomes Max Group AF 0.70603023 (NFE)
Exomes Max Group AF 0.68647069 (NFE)
dbSNP:
2292832
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240456086T>C , CM000664.2:g.240456086T>C GRCh38
NC_000002.11:g.241395503T>C , CM000664.1:g.241395503T>C GRCh37
NC_000002.10:g.241044176T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264039.7:c.167-2944T>C (GPC1) MANE Select ENSP00000264039.2:n.167-2944T>C
ENST00000264039.6:c.167-2944T>C (GPC1) ENSP00000264039.2:n.167-2944T>C
ENST00000420138.5:c.-50-2944T>C (GPC1) ENSP00000415077.2:n.-50-2944T>C
ENST00000426280.3:c.16+1066T>C (GPC1) ENSP00000410251.1:n.16+1066T>C
ENST00000469694.5:n.181-2944T>C (GPC1)
NM_002081.2:c.167-2944T>C (GPC1) NP_002072.2:n.167-2944T>C
NR_024014.1:n.104+511A>G (GPC1-AS1)
NR_029702.1:n.86T>C (MIR149)
NM_001359125.1:c.67+511A>G (GPC1-AS1) NP_001346054.1:n.67+511A>G
NM_002081.3:c.167-2944T>C (GPC1) MANE Select NP_002072.2:n.167-2944T>C
NR_161169.1:n.104+511A>G (GPC1-AS1)
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