Canonical Allele Identifier: CA7751756

Gene: IGF1R

Linked Data

• dbSNP Id: rs753422286
• ExAC: 15:99250874 C / T
• gnomAD v2: 15-99250874-C-T
• gnomAD v4: 15-98707645-C-T
• MyVariant Identifiers: chr15:g.99250874C>T (hg19) ; chr15:g.98707645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707645C>T , CM000677.2:g.98707645C>T	GRCh38
NC_000015.9:g.99250874C>T , CM000677.1:g.99250874C>T	GRCh37
NC_000015.8:g.97068397C>T	NCBI36
NG_009492.1:g.63114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.178C>T	ENSP00000496919.1:p.His60Tyr
ENST00000650285.1:c.178C>T MANE Select	ENSP00000497069.1:p.His60Tyr
ENST00000268035.10:c.178C>T	ENSP00000268035.6:p.His60Tyr
ENST00000558762.5:c.178C>T	ENSP00000453007.1:p.His60Tyr
ENST00000559925.5:n.178C>T
NM_000875.4:c.178C>T	NP_000866.1:p.His60Tyr
NM_001291858.1:c.178C>T	NP_001278787.1:p.His60Tyr
XM_011521513.1:c.178C>T	XP_011519815.1:p.His60Tyr
XM_011521514.1:c.178C>T	XP_011519816.1:p.His60Tyr
XM_011521515.1:c.178C>T	XP_011519817.1:p.His60Tyr
XM_017022136.1:c.253C>T	XP_016877625.1:p.His85Tyr
XM_017022137.1:c.253C>T	XP_016877626.1:p.His85Tyr
XM_017022138.1:c.253C>T	XP_016877627.1:p.His85Tyr
XM_017022139.1:c.-186C>T	XP_016877628.1:n.-186C>T
NM_000875.5:c.178C>T MANE Select	NP_000866.1:p.His60Tyr
NM_001291858.2:c.178C>T	NP_001278787.1:p.His60Tyr