Canonical Allele Identifier: CA394263915

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1232074134
• gnomAD v2: 16-1840884-C-G
• gnomAD v3: 16-1790883-C-G
• gnomAD v4: 16-1790883-C-G
• MyVariant Identifiers: chr16:g.1840884C>G (hg19) ; chr16:g.1790883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790883C>G , CM000678.2:g.1790883C>G	GRCh38
NC_000016.9:g.1840884C>G , CM000678.1:g.1840884C>G	GRCh37
NC_000016.8:g.1780885C>G	NCBI36
NG_011778.1:g.7851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1535G>C (IGFALS) MANE Select	ENSP00000215539.3:p.Ser512Thr
ENST00000215539.3:c.1535G>C (IGFALS)	ENSP00000215539.3:p.Ser512Thr
ENST00000415638.3:c.1649G>C (IGFALS)	ENSP00000416683.3:p.Ser550Thr
ENST00000569769.1:c.-13+2754G>C (SPSB3)	ENSP00000455098.1:n.-13+2754G>C
NM_001146006.1:c.1649G>C (IGFALS)	NP_001139478.1:p.Ser550Thr
NM_004970.2:c.1535G>C (IGFALS)	NP_004961.1:p.Ser512Thr
NR_027389.1:n.1589G>C (IGFALS)
XM_011522476.1:c.1616G>C (IGFALS)	XP_011520778.1:p.Ser539Thr
NM_001146006.2:c.1649G>C (IGFALS)	NP_001139478.1:p.Ser550Thr
NM_004970.3:c.1535G>C (IGFALS) MANE Select	NP_004961.1:p.Ser512Thr