Canonical Allele Identifier: CA218160270

Gene: SPON1

Linked Data

• dbSNP Id: rs551861528
• gnomAD v3: 11-13974536-G-A
• gnomAD v4: 11-13974536-G-A
• MyVariant Identifiers: chr11:g.13996083G>A (hg19) ; chr11:g.13974536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974536G>A , CM000673.2:g.13974536G>A	GRCh38
NC_000011.9:g.13996083G>A , CM000673.1:g.13996083G>A	GRCh37
NC_000011.8:g.13952659G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000576479.4:c.239-8311G>A MANE Select	ENSP00000460236.1:n.239-8311G>A
ENST00000576479.3:c.239-8311G>A	ENSP00000460236.1:n.239-8311G>A
NM_006108.3:c.239-8311G>A	NP_006099.2:n.239-8311G>A
NM_006108.4:c.239-8311G>A MANE Select	NP_006099.2:n.239-8311G>A