Canonical Allele Identifier: CA7180492
Gene: ATL1 HGNC NCBI

Linked Data

dbSNP Id: rs771749577

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628428T>C , CM000676.2:g.50628428T>C GRCh38
NC_000014.8:g.51095146T>C , CM000676.1:g.51095146T>C GRCh37
NC_000014.7:g.50164896T>C NCBI36
NG_009028.1:g.100347T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1517T>C ENSP00000450989.2:p.Val506Ala
ENST00000556478.3:c.1517T>C ENSP00000501428.2:p.Val506Ala
ENST00000682037.1:c.1517T>C ENSP00000508289.1:p.Val506Ala
ENST00000682219.1:n.2855T>C
ENST00000683037.1:n.1438T>C
ENST00000683330.1:n.1851T>C
ENST00000358385.12:c.1517T>C MANE Select ENSP00000351155.7:p.Val506Ala
ENST00000674288.1:c.*2809T>C ENSP00000501522.1:n.*2809T>C
ENST00000358385.10:c.1517T>C ENSP00000351155.6:p.Val506Ala
ENST00000441560.6:c.1517T>C ENSP00000413675.2:p.Val506Ala
ENST00000556067.1:c.263T>C ENSP00000451100.1:p.Val88Ala
NM_001127713.1:c.1517T>C NP_001121185.1:p.Val506Ala
NM_015915.4:c.1517T>C NP_056999.2:p.Val506Ala
NM_181598.3:c.1517T>C NP_853629.2:p.Val506Ala
NM_015915.5:c.1517T>C MANE Select NP_056999.2:p.Val506Ala
NM_181598.4:c.1517T>C NP_853629.2:p.Val506Ala