Canonical Allele Identifier: CA393678767

Gene: IGF1R

Linked Data

• dbSNP Id: rs1464036552
• gnomAD v2: 15-99456283-A-C
• gnomAD v3: 15-98913054-A-C
• gnomAD v4: 15-98913054-A-C
• MyVariant Identifiers: chr15:g.99456283A>C (hg19) ; chr15:g.98913054A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98913054A>C , CM000677.2:g.98913054A>C	GRCh38
NC_000015.9:g.99456283A>C , CM000677.1:g.99456283A>C	GRCh37
NC_000015.8:g.97273806A>C	NCBI36
NG_009492.1:g.268523A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.1600A>C	ENSP00000496919.1:p.Asn534His
ENST00000650285.1:c.1600A>C MANE Select	ENSP00000497069.1:p.Asn534His
ENST00000268035.10:c.1600A>C	ENSP00000268035.6:p.Asn534His
ENST00000558762.5:c.1600A>C	ENSP00000453007.1:p.Asn534His
ENST00000559582.1:n.507A>C
ENST00000559925.5:n.1600A>C
NM_000875.4:c.1600A>C	NP_000866.1:p.Asn534His
NM_001291858.1:c.1600A>C	NP_001278787.1:p.Asn534His
XM_011521513.1:c.1663A>C	XP_011519815.1:p.Asn555His
XM_011521514.1:c.1663A>C	XP_011519816.1:p.Asn555His
XM_011521515.1:c.1663A>C	XP_011519817.1:p.Asn555His
XM_011521516.1:c.691A>C	XP_011519818.1:p.Asn231His
XM_011521517.1:c.265A>C	XP_011519819.1:p.Asn89His
XM_011521516.2:c.691A>C	XP_011519818.1:p.Asn231His
XM_011521517.2:c.265A>C	XP_011519819.1:p.Asn89His
XM_017022136.1:c.1675A>C	XP_016877625.1:p.Asn559His
XM_017022137.1:c.1675A>C	XP_016877626.1:p.Asn559His
XM_017022138.1:c.1675A>C	XP_016877627.1:p.Asn559His
XM_017022139.1:c.1237A>C	XP_016877628.1:p.Asn413His
XM_024449913.1:c.691A>C	XP_024305681.1:p.Asn231His
NM_000875.5:c.1600A>C MANE Select	NP_000866.1:p.Asn534His
NM_001291858.2:c.1600A>C	NP_001278787.1:p.Asn534His