Canonical Allele Identifier: CA394263865

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs1596885175
• gnomAD v4: 16-1790868-G-A
• MyVariant Identifiers: chr16:g.1840869G>A (hg19) ; chr16:g.1790868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790868G>A , CM000678.2:g.1790868G>A	GRCh38
NC_000016.9:g.1840869G>A , CM000678.1:g.1840869G>A	GRCh37
NC_000016.8:g.1780870G>A	NCBI36
NG_011778.1:g.7866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1550C>T (IGFALS) MANE Select	ENSP00000215539.3:p.Ser517Leu
ENST00000215539.3:c.1550C>T (IGFALS)	ENSP00000215539.3:p.Ser517Leu
ENST00000415638.3:c.1664C>T (IGFALS)	ENSP00000416683.3:p.Ser555Leu
ENST00000569769.1:c.-13+2769C>T (SPSB3)	ENSP00000455098.1:n.-13+2769C>T
NM_001146006.1:c.1664C>T (IGFALS)	NP_001139478.1:p.Ser555Leu
NM_004970.2:c.1550C>T (IGFALS)	NP_004961.1:p.Ser517Leu
NR_027389.1:n.1604C>T (IGFALS)
XM_011522476.1:c.1631C>T (IGFALS)	XP_011520778.1:p.Ser544Leu
NM_001146006.2:c.1664C>T (IGFALS)	NP_001139478.1:p.Ser555Leu
NM_004970.3:c.1550C>T (IGFALS) MANE Select	NP_004961.1:p.Ser517Leu