Canonical Allele Identifier: CA393659081

Gene: IGF1R

Linked Data

• dbSNP Id: rs1351130675
• gnomAD v2: 15-99478632-C-T
• gnomAD v4: 15-98935403-C-T
• MyVariant Identifiers: chr15:g.99478632C>T (hg19) ; chr15:g.98935403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98935403C>T , CM000677.2:g.98935403C>T	GRCh38
NC_000015.9:g.99478632C>T , CM000677.1:g.99478632C>T	GRCh37
NC_000015.8:g.97296155C>T	NCBI36
NG_009492.1:g.290872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.3271C>T	ENSP00000496919.1:p.Arg1091Trp
ENST00000650285.1:c.3274C>T MANE Select	ENSP00000497069.1:p.Arg1092Trp
ENST00000268035.10:c.3274C>T	ENSP00000268035.6:p.Arg1092Trp
ENST00000558762.5:c.3271C>T	ENSP00000453007.1:p.Arg1091Trp
NM_000875.4:c.3274C>T	NP_000866.1:p.Arg1092Trp
NM_001291858.1:c.3271C>T	NP_001278787.1:p.Arg1091Trp
XM_011521513.1:c.3337C>T	XP_011519815.1:p.Arg1113Trp
XM_011521514.1:c.3337C>T	XP_011519816.1:p.Arg1113Trp
XM_011521515.1:c.3334C>T	XP_011519817.1:p.Arg1112Trp
XM_011521516.1:c.2365C>T	XP_011519818.1:p.Arg789Trp
XM_011521517.1:c.1939C>T	XP_011519819.1:p.Arg647Trp
XM_011521516.2:c.2365C>T	XP_011519818.1:p.Arg789Trp
XM_011521517.2:c.1939C>T	XP_011519819.1:p.Arg647Trp
XM_017022136.1:c.3349C>T	XP_016877625.1:p.Arg1117Trp
XM_017022137.1:c.3349C>T	XP_016877626.1:p.Arg1117Trp
XM_017022138.1:c.3346C>T	XP_016877627.1:p.Arg1116Trp
XM_017022139.1:c.2911C>T	XP_016877628.1:p.Arg971Trp
XM_024449913.1:c.2365C>T	XP_024305681.1:p.Arg789Trp
NM_000875.5:c.3274C>T MANE Select	NP_000866.1:p.Arg1092Trp
NM_001291858.2:c.3271C>T	NP_001278787.1:p.Arg1091Trp