Canonical Allele Identifier: CA7751887
Community Standard Title: NM_000875.5(IGF1R):c.732C>T (p.Asn244=)
Gene: IGF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98891416C>T , CM000677.2:g.98891416C>T GRCh38
NC_000015.9:g.99434645C>T , CM000677.1:g.99434645C>T GRCh37
NC_000015.8:g.97252168C>T NCBI36
NG_009492.1:g.246885C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000875.5:c.732C>T MANE Select NP_000866.1:p.Asn244=
ENST00000650285.1:c.732C>T MANE Select ENSP00000497069.1:p.Asn244=
NM_000875.4:c.732C>T NP_000866.1:p.Asn244=
NM_001291858.1:c.732C>T NP_001278787.1:p.Asn244=
NM_001291858.2:c.732C>T NP_001278787.1:p.Asn244=
ENST00000268035.10:c.732C>T ENSP00000268035.6:p.Asn244=
ENST00000557873.5:n.229C>T
ENST00000557938.5:n.134C>T
ENST00000558355.1:c.369C>T ENSP00000453630.1:p.Asn123=
ENST00000558762.5:c.732C>T ENSP00000453007.1:p.Asn244=
ENST00000558898.1:c.-178C>T ENSP00000454115.1:n.-178C>T
ENST00000559925.5:n.732C>T
ENST00000560186.5:n.167C>T
ENST00000560277.5:n.212C>T
ENST00000560432.1:n.306C>T
ENST00000649865.1:c.732C>T ENSP00000496919.1:p.Asn244=
XM_011521513.1:c.795C>T XP_011519815.1:p.Asn265=
XM_011521514.1:c.795C>T XP_011519816.1:p.Asn265=
XM_011521515.1:c.795C>T XP_011519817.1:p.Asn265=
XM_011521516.1:c.-178C>T XP_011519818.1:n.-178C>T
XM_011521516.2:c.-178C>T XP_011519818.1:n.-178C>T
XM_017022136.1:c.807C>T XP_016877625.1:p.Asn269=
XM_017022137.1:c.807C>T XP_016877626.1:p.Asn269=
XM_017022138.1:c.807C>T XP_016877627.1:p.Asn269=
XM_017022139.1:c.369C>T XP_016877628.1:p.Asn123=
XM_024449913.1:c.-178C>T XP_024305681.1:n.-178C>T