Canonical Allele Identifier: CA7180472
Gene: ATL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857576
dbSNP Id: rs759126910

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628266T>C , CM000676.2:g.50628266T>C GRCh38
NC_000014.8:g.51094984T>C , CM000676.1:g.51094984T>C GRCh37
NC_000014.7:g.50164734T>C NCBI36
NG_009028.1:g.100185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1355T>C ENSP00000450989.2:p.Phe452Ser
ENST00000556478.3:c.1355T>C ENSP00000501428.2:p.Phe452Ser
ENST00000682037.1:c.1355T>C ENSP00000508289.1:p.Phe452Ser
ENST00000682219.1:n.2693T>C
ENST00000683037.1:n.1276T>C
ENST00000683330.1:n.1689T>C
ENST00000358385.12:c.1355T>C MANE Select ENSP00000351155.7:p.Phe452Ser
ENST00000674288.1:c.*2647T>C ENSP00000501522.1:n.*2647T>C
ENST00000358385.10:c.1355T>C ENSP00000351155.6:p.Phe452Ser
ENST00000441560.6:c.1355T>C ENSP00000413675.2:p.Phe452Ser
ENST00000556067.1:c.101T>C ENSP00000451100.1:p.Phe34Ser
NM_001127713.1:c.1355T>C NP_001121185.1:p.Phe452Ser
NM_015915.4:c.1355T>C NP_056999.2:p.Phe452Ser
NM_181598.3:c.1355T>C NP_853629.2:p.Phe452Ser
NM_015915.5:c.1355T>C MANE Select NP_056999.2:p.Phe452Ser
NM_181598.4:c.1355T>C NP_853629.2:p.Phe452Ser