Canonical Allele Identifier: CA343307080

Gene: ITLN1

Linked Data

• MyVariant Identifiers: chr1:g.160851772T>G (hg19) ; chr1:g.160881982T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160881982T>G , CM000663.2:g.160881982T>G	GRCh38
NC_000001.10:g.160851772T>G , CM000663.1:g.160851772T>G	GRCh37
NC_000001.9:g.159118396T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.380A>C MANE Select	ENSP00000323587.3:p.Glu127Ala
ENST00000326245.3:c.380A>C	ENSP00000323587.3:p.Glu127Ala
ENST00000464077.1:n.314A>C
NM_017625.2:c.380A>C	NP_060095.2:p.Glu127Ala
NM_017625.3:c.380A>C MANE Select	NP_060095.2:p.Glu127Ala