Canonical Allele Identifier: CA393676124

Gene: IGF1R

Linked Data

• dbSNP Id: rs2014856070
• gnomAD v3: 15-98908840-C-G
• gnomAD v4: 15-98908840-C-G
• MyVariant Identifiers: chr15:g.99452069C>G (hg19) ; chr15:g.98908840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908840C>G , CM000677.2:g.98908840C>G	GRCh38
NC_000015.9:g.99452069C>G , CM000677.1:g.99452069C>G	GRCh37
NC_000015.8:g.97269592C>G	NCBI36
NG_009492.1:g.264309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1403C>G	ENSP00000496919.1:p.Thr468Ser
ENST00000650285.1:c.1403C>G MANE Select	ENSP00000497069.1:p.Thr468Ser
ENST00000268035.10:c.1403C>G	ENSP00000268035.6:p.Thr468Ser
ENST00000558762.5:c.1403C>G	ENSP00000453007.1:p.Thr468Ser
ENST00000558898.1:c.494C>G	ENSP00000454115.1:p.Thr165Ser
ENST00000559582.1:n.310C>G
ENST00000559925.5:n.1403C>G
NM_000875.4:c.1403C>G	NP_000866.1:p.Thr468Ser
NM_001291858.1:c.1403C>G	NP_001278787.1:p.Thr468Ser
XM_011521513.1:c.1466C>G	XP_011519815.1:p.Thr489Ser
XM_011521514.1:c.1466C>G	XP_011519816.1:p.Thr489Ser
XM_011521515.1:c.1466C>G	XP_011519817.1:p.Thr489Ser
XM_011521516.1:c.494C>G	XP_011519818.1:p.Thr165Ser
XM_011521517.1:c.68C>G	XP_011519819.1:p.Thr23Ser
XM_011521516.2:c.494C>G	XP_011519818.1:p.Thr165Ser
XM_011521517.2:c.68C>G	XP_011519819.1:p.Thr23Ser
XM_017022136.1:c.1478C>G	XP_016877625.1:p.Thr493Ser
XM_017022137.1:c.1478C>G	XP_016877626.1:p.Thr493Ser
XM_017022138.1:c.1478C>G	XP_016877627.1:p.Thr493Ser
XM_017022139.1:c.1040C>G	XP_016877628.1:p.Thr347Ser
XM_024449913.1:c.494C>G	XP_024305681.1:p.Thr165Ser
NM_000875.5:c.1403C>G MANE Select	NP_000866.1:p.Thr468Ser
NM_001291858.2:c.1403C>G	NP_001278787.1:p.Thr468Ser