Canonical Allele Identifier: CA493035592

Gene: IGFALS SPSB3

Linked Data

• gnomAD v4: 16-1790906-T-A
• MyVariant Identifiers: chr16:g.1840907T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790906T>A , CM000678.2:g.1790906T>A	GRCh38
NC_000016.9:g.1840907T>A , CM000678.1:g.1840907T>A	GRCh37
NC_000016.8:g.1780908T>A	NCBI36
NG_011778.1:g.7828A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1512A>T (IGFALS) MANE Select	ENSP00000215539.3:p.Pro504=
ENST00000215539.3:c.1512A>T (IGFALS)	ENSP00000215539.3:p.Pro504=
ENST00000415638.3:c.1626A>T (IGFALS)	ENSP00000416683.3:p.Pro542=
ENST00000569769.1:c.-13+2731A>T (SPSB3)	ENSP00000455098.1:n.-13+2731A>T
NM_001146006.1:c.1626A>T (IGFALS)	NP_001139478.1:p.Pro542=
NM_004970.2:c.1512A>T (IGFALS)	NP_004961.1:p.Pro504=
NR_027389.1:n.1566A>T (IGFALS)
XM_011522476.1:c.1593A>T (IGFALS)	XP_011520778.1:p.Pro531=
NM_001146006.2:c.1626A>T (IGFALS)	NP_001139478.1:p.Pro542=
NM_004970.3:c.1512A>T (IGFALS) MANE Select	NP_004961.1:p.Pro504=