Canonical Allele Identifier: CA597781088

Gene: SPON1

Linked Data

• dbSNP Id: rs1216504902
• gnomAD v2: 11-13996100-T-G
• gnomAD v3: 11-13974553-T-G
• gnomAD v4: 11-13974553-T-G
• MyVariant Identifiers: chr11:g.13996100T>G (hg19) ; chr11:g.13974553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974553T>G , CM000673.2:g.13974553T>G	GRCh38
NC_000011.9:g.13996100T>G , CM000673.1:g.13996100T>G	GRCh37
NC_000011.8:g.13952676T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000576479.4:c.239-8294T>G MANE Select	ENSP00000460236.1:n.239-8294T>G
ENST00000576479.3:c.239-8294T>G	ENSP00000460236.1:n.239-8294T>G
NM_006108.3:c.239-8294T>G	NP_006099.2:n.239-8294T>G
NM_006108.4:c.239-8294T>G MANE Select	NP_006099.2:n.239-8294T>G