Canonical Allele Identifier: CA394263910

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1343652907
• gnomAD v2: 16-1840882-G-C
• gnomAD v4: 16-1790881-G-C
• MyVariant Identifiers: chr16:g.1840882G>C (hg19) ; chr16:g.1790881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790881G>C , CM000678.2:g.1790881G>C	GRCh38
NC_000016.9:g.1840882G>C , CM000678.1:g.1840882G>C	GRCh37
NC_000016.8:g.1780883G>C	NCBI36
NG_011778.1:g.7853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1537C>G (IGFALS) MANE Select	ENSP00000215539.3:p.Leu513Val
ENST00000215539.3:c.1537C>G (IGFALS)	ENSP00000215539.3:p.Leu513Val
ENST00000415638.3:c.1651C>G (IGFALS)	ENSP00000416683.3:p.Leu551Val
ENST00000569769.1:c.-13+2756C>G (SPSB3)	ENSP00000455098.1:n.-13+2756C>G
NM_001146006.1:c.1651C>G (IGFALS)	NP_001139478.1:p.Leu551Val
NM_004970.2:c.1537C>G (IGFALS)	NP_004961.1:p.Leu513Val
NR_027389.1:n.1591C>G (IGFALS)
XM_011522476.1:c.1618C>G (IGFALS)	XP_011520778.1:p.Leu540Val
NM_001146006.2:c.1651C>G (IGFALS)	NP_001139478.1:p.Leu551Val
NM_004970.3:c.1537C>G (IGFALS) MANE Select	NP_004961.1:p.Leu513Val