Canonical Allele Identifier: CA7820314

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs773569527
• ExAC: 16:1841014 G / A
• gnomAD v2: 16-1841014-G-A
• gnomAD v3: 16-1791013-G-A
• gnomAD v4: 16-1791013-G-A
• MyVariant Identifiers: chr16:g.1841014G>A (hg19) ; chr16:g.1791013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1791013G>A , CM000678.2:g.1791013G>A	GRCh38
NC_000016.9:g.1841014G>A , CM000678.1:g.1841014G>A	GRCh37
NC_000016.8:g.1781015G>A	NCBI36
NG_011778.1:g.7721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1405C>T (IGFALS) MANE Select	ENSP00000215539.3:p.Arg469Cys
ENST00000215539.3:c.1405C>T (IGFALS)	ENSP00000215539.3:p.Arg469Cys
ENST00000415638.3:c.1519C>T (IGFALS)	ENSP00000416683.3:p.Arg507Cys
ENST00000569769.1:c.-13+2624C>T (SPSB3)	ENSP00000455098.1:n.-13+2624C>T
NM_001146006.1:c.1519C>T (IGFALS)	NP_001139478.1:p.Arg507Cys
NM_004970.2:c.1405C>T (IGFALS)	NP_004961.1:p.Arg469Cys
NR_027389.1:n.1459C>T (IGFALS)
XM_011522476.1:c.1486C>T (IGFALS)	XP_011520778.1:p.Arg496Cys
NM_001146006.2:c.1519C>T (IGFALS)	NP_001139478.1:p.Arg507Cys
NM_004970.3:c.1405C>T (IGFALS) MANE Select	NP_004961.1:p.Arg469Cys