Canonical Allele Identifier: CA7752077

Gene: IGF1R

Linked Data

• dbSNP Id: rs777004579
• ExAC: 15:99452045 A / C
• gnomAD v2: 15-99452045-A-C
• gnomAD v3: 15-98908816-A-C
• gnomAD v4: 15-98908816-A-C
• MyVariant Identifiers: chr15:g.99452045A>C (hg19) ; chr15:g.98908816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908816A>C , CM000677.2:g.98908816A>C	GRCh38
NC_000015.9:g.99452045A>C , CM000677.1:g.99452045A>C	GRCh37
NC_000015.8:g.97269568A>C	NCBI36
NG_009492.1:g.264285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1379A>C	ENSP00000496919.1:p.Tyr460Ser
ENST00000650285.1:c.1379A>C MANE Select	ENSP00000497069.1:p.Tyr460Ser
ENST00000268035.10:c.1379A>C	ENSP00000268035.6:p.Tyr460Ser
ENST00000558762.5:c.1379A>C	ENSP00000453007.1:p.Tyr460Ser
ENST00000558898.1:c.470A>C	ENSP00000454115.1:p.Tyr157Ser
ENST00000559582.1:n.286A>C
ENST00000559925.5:n.1379A>C
NM_000875.4:c.1379A>C	NP_000866.1:p.Tyr460Ser
NM_001291858.1:c.1379A>C	NP_001278787.1:p.Tyr460Ser
XM_011521513.1:c.1442A>C	XP_011519815.1:p.Tyr481Ser
XM_011521514.1:c.1442A>C	XP_011519816.1:p.Tyr481Ser
XM_011521515.1:c.1442A>C	XP_011519817.1:p.Tyr481Ser
XM_011521516.1:c.470A>C	XP_011519818.1:p.Tyr157Ser
XM_011521517.1:c.44A>C	XP_011519819.1:p.Tyr15Ser
XM_011521516.2:c.470A>C	XP_011519818.1:p.Tyr157Ser
XM_011521517.2:c.44A>C	XP_011519819.1:p.Tyr15Ser
XM_017022136.1:c.1454A>C	XP_016877625.1:p.Tyr485Ser
XM_017022137.1:c.1454A>C	XP_016877626.1:p.Tyr485Ser
XM_017022138.1:c.1454A>C	XP_016877627.1:p.Tyr485Ser
XM_017022139.1:c.1016A>C	XP_016877628.1:p.Tyr339Ser
XM_024449913.1:c.470A>C	XP_024305681.1:p.Tyr157Ser
NM_000875.5:c.1379A>C MANE Select	NP_000866.1:p.Tyr460Ser
NM_001291858.2:c.1379A>C	NP_001278787.1:p.Tyr460Ser