Canonical Allele Identifier: CA394263843

Gene: IGFALS SPSB3

Linked Data

• MyVariant Identifiers: chr16:g.1840858A>T (hg19) ; chr16:g.1790857A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790857A>T , CM000678.2:g.1790857A>T	GRCh38
NC_000016.9:g.1840858A>T , CM000678.1:g.1840858A>T	GRCh37
NC_000016.8:g.1780859A>T	NCBI36
NG_011778.1:g.7877T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1561T>A (IGFALS) MANE Select	ENSP00000215539.3:p.Phe521Ile
ENST00000215539.3:c.1561T>A (IGFALS)	ENSP00000215539.3:p.Phe521Ile
ENST00000415638.3:c.1675T>A (IGFALS)	ENSP00000416683.3:p.Phe559Ile
ENST00000569769.1:c.-13+2780T>A (SPSB3)	ENSP00000455098.1:n.-13+2780T>A
NM_001146006.1:c.1675T>A (IGFALS)	NP_001139478.1:p.Phe559Ile
NM_004970.2:c.1561T>A (IGFALS)	NP_004961.1:p.Phe521Ile
NR_027389.1:n.1615T>A (IGFALS)
XM_011522476.1:c.1642T>A (IGFALS)	XP_011520778.1:p.Phe548Ile
NM_001146006.2:c.1675T>A (IGFALS)	NP_001139478.1:p.Phe559Ile
NM_004970.3:c.1561T>A (IGFALS) MANE Select	NP_004961.1:p.Phe521Ile