Canonical Allele Identifier: CA493035549

Gene: IGFALS SPSB3

Linked Data

• ClinVar Variation Id: 3053708
• ClinVar RCV Id: RCV003964230
• gnomAD v4: 16-1790972-C-T
• MyVariant Identifiers: chr16:g.1840973C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790972C>T , CM000678.2:g.1790972C>T	GRCh38
NC_000016.9:g.1840973C>T , CM000678.1:g.1840973C>T	GRCh37
NC_000016.8:g.1780974C>T	NCBI36
NG_011778.1:g.7762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1446G>A (IGFALS) MANE Select	ENSP00000215539.3:p.Gln482=
ENST00000215539.3:c.1446G>A (IGFALS)	ENSP00000215539.3:p.Gln482=
ENST00000415638.3:c.1560G>A (IGFALS)	ENSP00000416683.3:p.Gln520=
ENST00000569769.1:c.-13+2665G>A (SPSB3)	ENSP00000455098.1:n.-13+2665G>A
NM_001146006.1:c.1560G>A (IGFALS)	NP_001139478.1:p.Gln520=
NM_004970.2:c.1446G>A (IGFALS)	NP_004961.1:p.Gln482=
NR_027389.1:n.1500G>A (IGFALS)
XM_011522476.1:c.1527G>A (IGFALS)	XP_011520778.1:p.Gln509=
NM_001146006.2:c.1560G>A (IGFALS)	NP_001139478.1:p.Gln520=
NM_004970.3:c.1446G>A (IGFALS) MANE Select	NP_004961.1:p.Gln482=