Canonical Allele Identifier: CA291383661
Gene: IGF2BP1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.49055457T>A
GRCh37 chr17:g.47132819T>A
gnomAD v2:
17:47132819 T / A
gnomAD v3:
17:49055457 T / A
gnomAD v4:
chr17-49055457-T-A
Joint Max Group AF 0.00006354 (AMR)
Genomes Max Group AF 0.00002273 (AMR)
Exomes Max Group AF 0.00005727 (AMR)
dbSNP:
6504593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49055457T>A , CM000679.2:g.49055457T>A GRCh38
NC_000017.10:g.47132819T>A , CM000679.1:g.47132819T>A GRCh37
NC_000017.9:g.44487818T>A NCBI36
NG_030585.1:g.63046T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290341.8:c.*6013T>A MANE Select ENSP00000290341.3:n.*6013T>A
ENST00000290341.7:c.*6013T>A ENSP00000290341.3:n.*6013T>A
NM_001160423.1:c.*6013T>A NP_001153895.1:n.*6013T>A
NM_006546.3:c.*6013T>A NP_006537.3:n.*6013T>A
XM_005256955.2:c.*6013T>A XP_005257012.2:n.*6013T>A
XM_011524201.1:c.*6013T>A XP_011522503.1:n.*6013T>A
XM_005256955.3:c.*6013T>A XP_005257012.2:n.*6013T>A
XM_011524201.2:c.*6013T>A XP_011522503.1:n.*6013T>A
XM_017024022.1:c.*6013T>A XP_016879511.1:n.*6013T>A
NM_006546.4:c.*6013T>A MANE Select NP_006537.3:n.*6013T>A
NM_001160423.2:c.*6013T>A NP_001153895.1:n.*6013T>A
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