Canonical Allele Identifier: CA394264253
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1841019C>A (hg19) chr16:g.1791018C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1400G>T (IGFALS) MANE Select ENSP00000215539.3:p.Arg467Leu
ENST00000215539.3:c.1400G>T (IGFALS) ENSP00000215539.3:p.Arg467Leu
ENST00000415638.3:c.1514G>T (IGFALS) ENSP00000416683.3:p.Arg505Leu
ENST00000569769.1:c.-13+2619G>T (SPSB3) ENSP00000455098.1:n.-13+2619G>T
NM_001146006.1:c.1514G>T (IGFALS) NP_001139478.1:p.Arg505Leu
NM_004970.2:c.1400G>T (IGFALS) NP_004961.1:p.Arg467Leu
NR_027389.1:n.1454G>T (IGFALS)
XM_011522476.1:c.1481G>T (IGFALS) XP_011520778.1:p.Arg494Leu
NM_001146006.2:c.1514G>T (IGFALS) NP_001139478.1:p.Arg505Leu
NM_004970.3:c.1400G>T (IGFALS) MANE Select NP_004961.1:p.Arg467Leu
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