Canonical Allele Identifier: CA10643116

Gene: IGFALS SPSB3

Linked Data

• ClinVar Variation Id: 318238
• ClinVar RCV Id: RCV000282316 ; RCV002520987
• dbSNP Id: rs886051776
• gnomAD v4: 16-1790952-A-G
• MyVariant Identifiers: chr16:g.1840953A>G (hg19) ; chr16:g.1790952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790952A>G , CM000678.2:g.1790952A>G	GRCh38
NC_000016.9:g.1840953A>G , CM000678.1:g.1840953A>G	GRCh37
NC_000016.8:g.1780954A>G	NCBI36
NG_011778.1:g.7782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1466T>C (IGFALS) MANE Select	ENSP00000215539.3:p.Val489Ala
ENST00000215539.3:c.1466T>C (IGFALS)	ENSP00000215539.3:p.Val489Ala
ENST00000415638.3:c.1580T>C (IGFALS)	ENSP00000416683.3:p.Val527Ala
ENST00000569769.1:c.-13+2685T>C (SPSB3)	ENSP00000455098.1:n.-13+2685T>C
NM_001146006.1:c.1580T>C (IGFALS)	NP_001139478.1:p.Val527Ala
NM_004970.2:c.1466T>C (IGFALS)	NP_004961.1:p.Val489Ala
NR_027389.1:n.1520T>C (IGFALS)
XM_011522476.1:c.1547T>C (IGFALS)	XP_011520778.1:p.Val516Ala
NM_001146006.2:c.1580T>C (IGFALS)	NP_001139478.1:p.Val527Ala
NM_004970.3:c.1466T>C (IGFALS) MANE Select	NP_004961.1:p.Val489Ala