Canonical Allele Identifier: CA218160287
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs555452022
gnomAD v3: 11-13974744-T-C
gnomAD v4: 11-13974744-T-C
MyVariant Identifiers: chr11:g.13996291T>C (hg19) chr11:g.13974744T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974744T>C , CM000673.2:g.13974744T>C GRCh38
NC_000011.9:g.13996291T>C , CM000673.1:g.13996291T>C GRCh37
NC_000011.8:g.13952867T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000576479.4:c.239-8103T>C MANE Select ENSP00000460236.1:n.239-8103T>C
ENST00000576479.3:c.239-8103T>C ENSP00000460236.1:n.239-8103T>C
NM_006108.3:c.239-8103T>C NP_006099.2:n.239-8103T>C
NM_006108.4:c.239-8103T>C MANE Select NP_006099.2:n.239-8103T>C
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