Canonical Allele Identifier: CA492457632

Gene: IGF1R

Linked Data

• dbSNP Id: rs1485128448
• gnomAD v2: 15-99250873-C-T
• gnomAD v4: 15-98707644-C-T
• MyVariant Identifiers: chr15:g.99250873C>T (hg19) ; chr15:g.98707644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707644C>T , CM000677.2:g.98707644C>T	GRCh38
NC_000015.9:g.99250873C>T , CM000677.1:g.99250873C>T	GRCh37
NC_000015.8:g.97068396C>T	NCBI36
NG_009492.1:g.63113C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.177C>T	ENSP00000496919.1:p.Leu59=
ENST00000650285.1:c.177C>T MANE Select	ENSP00000497069.1:p.Leu59=
ENST00000268035.10:c.177C>T	ENSP00000268035.6:p.Leu59=
ENST00000558762.5:c.177C>T	ENSP00000453007.1:p.Leu59=
ENST00000559925.5:n.177C>T
NM_000875.4:c.177C>T	NP_000866.1:p.Leu59=
NM_001291858.1:c.177C>T	NP_001278787.1:p.Leu59=
XM_011521513.1:c.177C>T	XP_011519815.1:p.Leu59=
XM_011521514.1:c.177C>T	XP_011519816.1:p.Leu59=
XM_011521515.1:c.177C>T	XP_011519817.1:p.Leu59=
XM_017022136.1:c.252C>T	XP_016877625.1:p.Leu84=
XM_017022137.1:c.252C>T	XP_016877626.1:p.Leu84=
XM_017022138.1:c.252C>T	XP_016877627.1:p.Leu84=
XM_017022139.1:c.-187C>T	XP_016877628.1:n.-187C>T
NM_000875.5:c.177C>T MANE Select	NP_000866.1:p.Leu59=
NM_001291858.2:c.177C>T	NP_001278787.1:p.Leu59=