Canonical Allele Identifier: CA1202720
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs200007610
ExAC: 1:160851930 A / G
gnomAD v2: 1-160851930-A-G
gnomAD v3: 1-160882140-A-G
gnomAD v4: 1-160882140-A-G
MyVariant Identifiers: chr1:g.160851930A>G (hg19) chr1:g.160882140A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882140A>G , CM000663.2:g.160882140A>G GRCh38
NC_000001.10:g.160851930A>G , CM000663.1:g.160851930A>G GRCh37
NC_000001.9:g.159118554A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.222T>C MANE Select ENSP00000323587.3:p.Ser74=
ENST00000326245.3:c.222T>C ENSP00000323587.3:p.Ser74=
ENST00000464077.1:n.156T>C
NM_017625.2:c.222T>C NP_060095.2:p.Ser74=
NM_017625.3:c.222T>C MANE Select NP_060095.2:p.Ser74=
Search 100 bp 5'
Search 100 bp 3'