Allele Registry

Canonical Allele Identifier: CA275334098

Gene: IGF1R HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr15:g.98958173C>G

GRCh37 chr15:g.99501402C>G

Linked Data - Sequence & Population

gnomAD v2:

15:99501402 C / G

gnomAD v3:

15:98958173 C / G

gnomAD v4:

chr15-98958173-C-G

Joint Max Group AF 0.00710609 (AFR)

Genomes Max Group AF 0.00691242 (AFR)

Exomes Max Group AF 0.00718147 (AFR)

Linked Data - NCBI & NCI

dbSNP:

28457673

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98958173C>G , CM000677.2:g.98958173C>G	GRCh38
NC_000015.9:g.99501402C>G , CM000677.1:g.99501402C>G	GRCh37
NC_000015.8:g.97318925C>G	NCBI36
NG_009492.1:g.313642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.*731C>G	ENSP00000496919.1:n.*731C>G
ENST00000650285.1:c.*731C>G MANE Select	ENSP00000497069.1:n.*731C>G
ENST00000268035.10:c.*731C>G	ENSP00000268035.6:n.*731C>G
ENST00000558762.5:c.*731C>G	ENSP00000453007.1:n.*731C>G
NM_000875.4:c.*731C>G	NP_000866.1:n.*731C>G
NM_001291858.1:c.*731C>G	NP_001278787.1:n.*731C>G
XM_011521513.1:c.*731C>G	XP_011519815.1:n.*731C>G
XM_011521514.1:c.*245C>G	XP_011519816.1:n.*245C>G
XM_011521515.1:c.*731C>G	XP_011519817.1:n.*731C>G
XM_011521516.1:c.*731C>G	XP_011519818.1:n.*731C>G
XM_011521517.1:c.*731C>G	XP_011519819.1:n.*731C>G
XM_011521516.2:c.*731C>G	XP_011519818.1:n.*731C>G
XM_011521517.2:c.*731C>G	XP_011519819.1:n.*731C>G
XM_017022136.1:c.*731C>G	XP_016877625.1:n.*731C>G
XM_017022137.1:c.*245C>G	XP_016877626.1:n.*245C>G
XM_017022138.1:c.*731C>G	XP_016877627.1:n.*731C>G
XM_017022139.1:c.*731C>G	XP_016877628.1:n.*731C>G
XM_024449913.1:c.*731C>G	XP_024305681.1:n.*731C>G
NM_000875.5:c.*731C>G MANE Select	NP_000866.1:n.*731C>G
NM_001291858.2:c.*731C>G	NP_001278787.1:n.*731C>G

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