Canonical Allele Identifier: CA348222

Gene: ATL1

Linked Data

• ClinVar Variation Id: 219428
• ClinVar RCV Id: RCV000203941
• dbSNP Id: rs864622083
• MyVariant Identifiers: chr14:g.51094822C>A (hg19) ; chr14:g.50628104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628104C>A , CM000676.2:g.50628104C>A	GRCh38
NC_000014.8:g.51094822C>A , CM000676.1:g.51094822C>A	GRCh37
NC_000014.7:g.50164572C>A	NCBI36
NG_009028.1:g.100023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1193C>A	ENSP00000450989.2:p.Ser398Tyr
ENST00000556478.3:c.1193C>A	ENSP00000501428.2:p.Ser398Tyr
ENST00000682037.1:c.1193C>A	ENSP00000508289.1:p.Ser398Tyr
ENST00000682219.1:n.2531C>A
ENST00000683037.1:n.1114C>A
ENST00000683330.1:n.1527C>A
ENST00000358385.12:c.1193C>A MANE Select	ENSP00000351155.7:p.Ser398Tyr
ENST00000674288.1:c.*2485C>A	ENSP00000501522.1:n.*2485C>A
ENST00000358385.10:c.1193C>A	ENSP00000351155.6:p.Ser398Tyr
ENST00000441560.6:c.1193C>A	ENSP00000413675.2:p.Ser398Tyr
ENST00000555266.1:c.336C>A	ENSP00000450897.1:n.336C>A
NM_001127713.1:c.1193C>A	NP_001121185.1:p.Ser398Tyr
NM_015915.4:c.1193C>A	NP_056999.2:p.Ser398Tyr
NM_181598.3:c.1193C>A	NP_853629.2:p.Ser398Tyr
NM_015915.5:c.1193C>A MANE Select	NP_056999.2:p.Ser398Tyr
NM_181598.4:c.1193C>A	NP_853629.2:p.Ser398Tyr