Canonical Allele Identifier: CA2790504969

Gene: SPON1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974656T>C , CM000673.2:g.13974656T>C	GRCh38
NC_000011.9:g.13996203T>C , CM000673.1:g.13996203T>C	GRCh37
NC_000011.8:g.13952779T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576479.4:c.239-8191T>C MANE Select	ENSP00000460236.1:n.239-8191T>C
ENST00000576479.3:c.239-8191T>C	ENSP00000460236.1:n.239-8191T>C
NM_006108.3:c.239-8191T>C	NP_006099.2:n.239-8191T>C
NM_006108.4:c.239-8191T>C MANE Select	NP_006099.2:n.239-8191T>C