Canonical Allele Identifier: CA343307459
Gene: ITLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160882159G>T
GRCh37 chr1:g.160851949G>T
Revel Score:
ENST00000326245 (MANE Select) 0.388
gnomAD v2:
1:160851949 G / T
gnomAD v3:
1:160882159 G / T
gnomAD v4:
chr1-160882159-G-T
Joint Max Group AF 6.8e-7 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882159G>T , CM000663.2:g.160882159G>T GRCh38
NC_000001.10:g.160851949G>T , CM000663.1:g.160851949G>T GRCh37
NC_000001.9:g.159118573G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.203C>A MANE Select ENSP00000323587.3:p.Thr68Asn
ENST00000326245.3:c.203C>A ENSP00000323587.3:p.Thr68Asn
ENST00000464077.1:n.137C>A
NM_017625.2:c.203C>A NP_060095.2:p.Thr68Asn
NM_017625.3:c.203C>A MANE Select NP_060095.2:p.Thr68Asn
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