Canonical Allele Identifier: CA393696830

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 1029963
• ClinVar RCV Id: RCV001331399
• dbSNP Id: rs1235094252
• gnomAD v2: 15-99250932-C-T
• gnomAD v3: 15-98707703-C-T
• gnomAD v4: 15-98707703-C-T
• MyVariant Identifiers: chr15:g.99250932C>T (hg19) ; chr15:g.98707703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707703C>T , CM000677.2:g.98707703C>T	GRCh38
NC_000015.9:g.99250932C>T , CM000677.1:g.99250932C>T	GRCh37
NC_000015.8:g.97068455C>T	NCBI36
NG_009492.1:g.63172C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.236C>T	ENSP00000496919.1:p.Thr79Met
ENST00000650285.1:c.236C>T MANE Select	ENSP00000497069.1:p.Thr79Met
ENST00000268035.10:c.236C>T	ENSP00000268035.6:p.Thr79Met
ENST00000558762.5:c.236C>T	ENSP00000453007.1:p.Thr79Met
ENST00000559925.5:n.236C>T
NM_000875.4:c.236C>T	NP_000866.1:p.Thr79Met
NM_001291858.1:c.236C>T	NP_001278787.1:p.Thr79Met
XM_011521513.1:c.236C>T	XP_011519815.1:p.Thr79Met
XM_011521514.1:c.236C>T	XP_011519816.1:p.Thr79Met
XM_011521515.1:c.236C>T	XP_011519817.1:p.Thr79Met
XM_017022136.1:c.311C>T	XP_016877625.1:p.Thr104Met
XM_017022137.1:c.311C>T	XP_016877626.1:p.Thr104Met
XM_017022138.1:c.311C>T	XP_016877627.1:p.Thr104Met
XM_017022139.1:c.-128C>T	XP_016877628.1:n.-128C>T
NM_000875.5:c.236C>T MANE Select	NP_000866.1:p.Thr79Met
NM_001291858.2:c.236C>T	NP_001278787.1:p.Thr79Met