Canonical Allele Identifier: CA7752075

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 765665
• ClinVar RCV Id: RCV000944110
• dbSNP Id: rs375300684
• ExAC: 15:99452037 C / T
• gnomAD v2: 15-99452037-C-T
• gnomAD v3: 15-98908808-C-T
• gnomAD v4: 15-98908808-C-T
• MyVariant Identifiers: chr15:g.99452037C>T (hg19) ; chr15:g.98908808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908808C>T , CM000677.2:g.98908808C>T	GRCh38
NC_000015.9:g.99452037C>T , CM000677.1:g.99452037C>T	GRCh37
NC_000015.8:g.97269560C>T	NCBI36
NG_009492.1:g.264277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1371C>T	ENSP00000496919.1:p.Ser457=
ENST00000650285.1:c.1371C>T MANE Select	ENSP00000497069.1:p.Ser457=
ENST00000268035.10:c.1371C>T	ENSP00000268035.6:p.Ser457=
ENST00000558762.5:c.1371C>T	ENSP00000453007.1:p.Ser457=
ENST00000558898.1:c.462C>T	ENSP00000454115.1:p.Ser154=
ENST00000559582.1:n.278C>T
ENST00000559925.5:n.1371C>T
NM_000875.4:c.1371C>T	NP_000866.1:p.Ser457=
NM_001291858.1:c.1371C>T	NP_001278787.1:p.Ser457=
XM_011521513.1:c.1434C>T	XP_011519815.1:p.Ser478=
XM_011521514.1:c.1434C>T	XP_011519816.1:p.Ser478=
XM_011521515.1:c.1434C>T	XP_011519817.1:p.Ser478=
XM_011521516.1:c.462C>T	XP_011519818.1:p.Ser154=
XM_011521517.1:c.36C>T	XP_011519819.1:p.Ser12=
XM_011521516.2:c.462C>T	XP_011519818.1:p.Ser154=
XM_011521517.2:c.36C>T	XP_011519819.1:p.Ser12=
XM_017022136.1:c.1446C>T	XP_016877625.1:p.Ser482=
XM_017022137.1:c.1446C>T	XP_016877626.1:p.Ser482=
XM_017022138.1:c.1446C>T	XP_016877627.1:p.Ser482=
XM_017022139.1:c.1008C>T	XP_016877628.1:p.Ser336=
XM_024449913.1:c.462C>T	XP_024305681.1:p.Ser154=
NM_000875.5:c.1371C>T MANE Select	NP_000866.1:p.Ser457=
NM_001291858.2:c.1371C>T	NP_001278787.1:p.Ser457=