Canonical Allele Identifier: CA7820315

Gene: IGFALS SPSB3

Linked Data

• dbSNP Id: rs369848154
• ExAC: 16:1841019 C / T
• gnomAD v2: 16-1841019-C-T
• gnomAD v3: 16-1791018-C-T
• gnomAD v4: 16-1791018-C-T
• MyVariant Identifiers: chr16:g.1841019C>T (hg19) ; chr16:g.1791018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1791018C>T , CM000678.2:g.1791018C>T	GRCh38
NC_000016.9:g.1841019C>T , CM000678.1:g.1841019C>T	GRCh37
NC_000016.8:g.1781020C>T	NCBI36
NG_011778.1:g.7716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1400G>A (IGFALS) MANE Select	ENSP00000215539.3:p.Arg467His
ENST00000215539.3:c.1400G>A (IGFALS)	ENSP00000215539.3:p.Arg467His
ENST00000415638.3:c.1514G>A (IGFALS)	ENSP00000416683.3:p.Arg505His
ENST00000569769.1:c.-13+2619G>A (SPSB3)	ENSP00000455098.1:n.-13+2619G>A
NM_001146006.1:c.1514G>A (IGFALS)	NP_001139478.1:p.Arg505His
NM_004970.2:c.1400G>A (IGFALS)	NP_004961.1:p.Arg467His
NR_027389.1:n.1454G>A (IGFALS)
XM_011522476.1:c.1481G>A (IGFALS)	XP_011520778.1:p.Arg494His
NM_001146006.2:c.1514G>A (IGFALS)	NP_001139478.1:p.Arg505His
NM_004970.3:c.1400G>A (IGFALS) MANE Select	NP_004961.1:p.Arg467His