Canonical Allele Identifier: CA7820584

Gene: IGFALS SPSB3

Linked Data

• ClinVar Variation Id: 318259
• ClinVar RCV Id: RCV000341548
• dbSNP Id: rs778824150
• ExAC: 16:1841981 G / A
• gnomAD v2: 16-1841981-G-A
• gnomAD v3: 16-1791980-G-A
• gnomAD v4: 16-1791980-G-A
• MyVariant Identifiers: chr16:g.1841981G>A (hg19) ; chr16:g.1791980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1791980G>A , CM000678.2:g.1791980G>A	GRCh38
NC_000016.9:g.1841981G>A , CM000678.1:g.1841981G>A	GRCh37
NC_000016.8:g.1781982G>A	NCBI36
NG_011778.1:g.6754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.438C>T (IGFALS) MANE Select	ENSP00000215539.3:p.Pro146=
ENST00000215539.3:c.438C>T (IGFALS)	ENSP00000215539.3:p.Pro146=
ENST00000415638.3:c.552C>T (IGFALS)	ENSP00000416683.3:p.Pro184=
ENST00000568221.1:c.*74C>T (IGFALS)	ENSP00000456923.1:n.*74C>T
ENST00000569769.1:c.-13+1657C>T (SPSB3)	ENSP00000455098.1:n.-13+1657C>T
NM_001146006.1:c.552C>T (IGFALS)	NP_001139478.1:p.Pro184=
NM_004970.2:c.438C>T (IGFALS)	NP_004961.1:p.Pro146=
NR_027389.1:n.492C>T (IGFALS)
XM_011522476.1:c.519C>T (IGFALS)	XP_011520778.1:p.Pro173=
NM_001146006.2:c.552C>T (IGFALS)	NP_001139478.1:p.Pro184=
NM_004970.3:c.438C>T (IGFALS) MANE Select	NP_004961.1:p.Pro146=