Canonical Allele Identifier: CA394263836

Gene: IGFALS SPSB3

Linked Data

• MyVariant Identifiers: chr16:g.1840857A>C (hg19) ; chr16:g.1790856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790856A>C , CM000678.2:g.1790856A>C	GRCh38
NC_000016.9:g.1840857A>C , CM000678.1:g.1840857A>C	GRCh37
NC_000016.8:g.1780858A>C	NCBI36
NG_011778.1:g.7878T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1562T>G (IGFALS) MANE Select	ENSP00000215539.3:p.Phe521Cys
ENST00000215539.3:c.1562T>G (IGFALS)	ENSP00000215539.3:p.Phe521Cys
ENST00000415638.3:c.1676T>G (IGFALS)	ENSP00000416683.3:p.Phe559Cys
ENST00000569769.1:c.-13+2781T>G (SPSB3)	ENSP00000455098.1:n.-13+2781T>G
NM_001146006.1:c.1676T>G (IGFALS)	NP_001139478.1:p.Phe559Cys
NM_004970.2:c.1562T>G (IGFALS)	NP_004961.1:p.Phe521Cys
NR_027389.1:n.1616T>G (IGFALS)
XM_011522476.1:c.1643T>G (IGFALS)	XP_011520778.1:p.Phe548Cys
NM_001146006.2:c.1676T>G (IGFALS)	NP_001139478.1:p.Phe559Cys
NM_004970.3:c.1562T>G (IGFALS) MANE Select	NP_004961.1:p.Phe521Cys