Canonical Allele Identifier: CA393675412
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908773A>T , CM000677.2:g.98908773A>T GRCh38
NC_000015.9:g.99452002A>T , CM000677.1:g.99452002A>T GRCh37
NC_000015.8:g.97269525A>T NCBI36
NG_009492.1:g.264242A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1336A>T ENSP00000496919.1:p.Met446Leu
ENST00000650285.1:c.1336A>T MANE Select ENSP00000497069.1:p.Met446Leu
ENST00000268035.10:c.1336A>T ENSP00000268035.6:p.Met446Leu
ENST00000558762.5:c.1336A>T ENSP00000453007.1:p.Met446Leu
ENST00000558898.1:c.427A>T ENSP00000454115.1:p.Met143Leu
ENST00000559582.1:n.243A>T
ENST00000559925.5:n.1336A>T
NM_000875.4:c.1336A>T NP_000866.1:p.Met446Leu
NM_001291858.1:c.1336A>T NP_001278787.1:p.Met446Leu
XM_011521513.1:c.1399A>T XP_011519815.1:p.Met467Leu
XM_011521514.1:c.1399A>T XP_011519816.1:p.Met467Leu
XM_011521515.1:c.1399A>T XP_011519817.1:p.Met467Leu
XM_011521516.1:c.427A>T XP_011519818.1:p.Met143Leu
XM_011521517.1:c.1A>T XP_011519819.1:p.Met1Leu
XM_011521516.2:c.427A>T XP_011519818.1:p.Met143Leu
XM_011521517.2:c.1A>T XP_011519819.1:p.Met1Leu
XM_017022136.1:c.1411A>T XP_016877625.1:p.Met471Leu
XM_017022137.1:c.1411A>T XP_016877626.1:p.Met471Leu
XM_017022138.1:c.1411A>T XP_016877627.1:p.Met471Leu
XM_017022139.1:c.973A>T XP_016877628.1:p.Met325Leu
XM_024449913.1:c.427A>T XP_024305681.1:p.Met143Leu
NM_000875.5:c.1336A>T MANE Select NP_000866.1:p.Met446Leu
NM_001291858.2:c.1336A>T NP_001278787.1:p.Met446Leu