Canonical Allele Identifier: CA394263889

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790874-T-C
• MyVariant Identifiers: chr16:g.1840875T>C (hg19) ; chr16:g.1790874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790874T>C , CM000678.2:g.1790874T>C	GRCh38
NC_000016.9:g.1840875T>C , CM000678.1:g.1840875T>C	GRCh37
NC_000016.8:g.1780876T>C	NCBI36
NG_011778.1:g.7860A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1544A>G (IGFALS) MANE Select	ENSP00000215539.3:p.Asn515Ser
ENST00000215539.3:c.1544A>G (IGFALS)	ENSP00000215539.3:p.Asn515Ser
ENST00000415638.3:c.1658A>G (IGFALS)	ENSP00000416683.3:p.Asn553Ser
ENST00000569769.1:c.-13+2763A>G (SPSB3)	ENSP00000455098.1:n.-13+2763A>G
NM_001146006.1:c.1658A>G (IGFALS)	NP_001139478.1:p.Asn553Ser
NM_004970.2:c.1544A>G (IGFALS)	NP_004961.1:p.Asn515Ser
NR_027389.1:n.1598A>G (IGFALS)
XM_011522476.1:c.1625A>G (IGFALS)	XP_011520778.1:p.Asn542Ser
NM_001146006.2:c.1658A>G (IGFALS)	NP_001139478.1:p.Asn553Ser
NM_004970.3:c.1544A>G (IGFALS) MANE Select	NP_004961.1:p.Asn515Ser