Canonical Allele Identifier: CA394263724

Gene: IGFALS SPSB3

Linked Data

• ClinVar Variation Id: 2255849
• ClinVar RCV Id: RCV002807749
• MyVariant Identifiers: chr16:g.1840821A>G (hg19) ; chr16:g.1790820A>G (hg38)

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