Canonical Allele Identifier: CA394263724
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2255849
ClinVar RCV Id: RCV002807749

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790820A>G , CM000678.2:g.1790820A>G GRCh38
NC_000016.9:g.1840821A>G , CM000678.1:g.1840821A>G GRCh37
NC_000016.8:g.1780822A>G NCBI36
NG_011778.1:g.7914T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1598T>C (IGFALS) MANE Select ENSP00000215539.3:p.Leu533Pro
ENST00000215539.3:c.1598T>C (IGFALS) ENSP00000215539.3:p.Leu533Pro
ENST00000415638.3:c.1712T>C (IGFALS) ENSP00000416683.3:p.Leu571Pro
ENST00000569769.1:c.-13+2817T>C (SPSB3) ENSP00000455098.1:n.-13+2817T>C
NM_001146006.1:c.1712T>C (IGFALS) NP_001139478.1:p.Leu571Pro
NM_004970.2:c.1598T>C (IGFALS) NP_004961.1:p.Leu533Pro
NR_027389.1:n.1652T>C (IGFALS)
XM_011522476.1:c.1679T>C (IGFALS) XP_011520778.1:p.Leu560Pro
NM_001146006.2:c.1712T>C (IGFALS) NP_001139478.1:p.Leu571Pro
NM_004970.3:c.1598T>C (IGFALS) MANE Select NP_004961.1:p.Leu533Pro