Canonical Allele Identifier: CA393696813
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707694C>T , CM000677.2:g.98707694C>T GRCh38
NC_000015.9:g.99250923C>T , CM000677.1:g.99250923C>T GRCh37
NC_000015.8:g.97068446C>T NCBI36
NG_009492.1:g.63163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.227C>T ENSP00000496919.1:p.Pro76Leu
ENST00000650285.1:c.227C>T MANE Select ENSP00000497069.1:p.Pro76Leu
ENST00000268035.10:c.227C>T ENSP00000268035.6:p.Pro76Leu
ENST00000558762.5:c.227C>T ENSP00000453007.1:p.Pro76Leu
ENST00000559925.5:n.227C>T
NM_000875.4:c.227C>T NP_000866.1:p.Pro76Leu
NM_001291858.1:c.227C>T NP_001278787.1:p.Pro76Leu
XM_011521513.1:c.227C>T XP_011519815.1:p.Pro76Leu
XM_011521514.1:c.227C>T XP_011519816.1:p.Pro76Leu
XM_011521515.1:c.227C>T XP_011519817.1:p.Pro76Leu
XM_017022136.1:c.302C>T XP_016877625.1:p.Pro101Leu
XM_017022137.1:c.302C>T XP_016877626.1:p.Pro101Leu
XM_017022138.1:c.302C>T XP_016877627.1:p.Pro101Leu
XM_017022139.1:c.-137C>T XP_016877628.1:n.-137C>T
NM_000875.5:c.227C>T MANE Select NP_000866.1:p.Pro76Leu
NM_001291858.2:c.227C>T NP_001278787.1:p.Pro76Leu