Canonical Allele Identifier: CA394264174

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs368227180
• COSMIC: COSM398944
• MyVariant Identifiers: chr16:g.1840974T>A (hg19) ; chr16:g.1790973T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790973T>A , CM000678.2:g.1790973T>A	GRCh38
NC_000016.9:g.1840974T>A , CM000678.1:g.1840974T>A	GRCh37
NC_000016.8:g.1780975T>A	NCBI36
NG_011778.1:g.7761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1445A>T (IGFALS) MANE Select	ENSP00000215539.3:p.Gln482Leu
ENST00000215539.3:c.1445A>T (IGFALS)	ENSP00000215539.3:p.Gln482Leu
ENST00000415638.3:c.1559A>T (IGFALS)	ENSP00000416683.3:p.Gln520Leu
ENST00000569769.1:c.-13+2664A>T (SPSB3)	ENSP00000455098.1:n.-13+2664A>T
NM_001146006.1:c.1559A>T (IGFALS)	NP_001139478.1:p.Gln520Leu
NM_004970.2:c.1445A>T (IGFALS)	NP_004961.1:p.Gln482Leu
NR_027389.1:n.1499A>T (IGFALS)
XM_011522476.1:c.1526A>T (IGFALS)	XP_011520778.1:p.Gln509Leu
NM_001146006.2:c.1559A>T (IGFALS)	NP_001139478.1:p.Gln520Leu
NM_004970.3:c.1445A>T (IGFALS) MANE Select	NP_004961.1:p.Gln482Leu