Canonical Allele Identifier: CA340232

Gene: ATL1

Linked Data

• ClinVar Variation Id: 4351
• ClinVar RCV Id: RCV000004599
• dbSNP Id: rs28939094
• MyVariant Identifiers: chr14:g.51094851A>G (hg19) ; chr14:g.50628133A>G (hg38)
• PubMed: PMID:12939451 ; PMID:20862796

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628133A>G , CM000676.2:g.50628133A>G	GRCh38
NC_000014.8:g.51094851A>G , CM000676.1:g.51094851A>G	GRCh37
NC_000014.7:g.50164601A>G	NCBI36
NG_009028.1:g.100052A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1222A>G	ENSP00000450989.2:p.Met408Val
ENST00000556478.3:c.1222A>G	ENSP00000501428.2:p.Met408Val
ENST00000682037.1:c.1222A>G	ENSP00000508289.1:p.Met408Val
ENST00000682219.1:n.2560A>G
ENST00000683037.1:n.1143A>G
ENST00000683330.1:n.1556A>G
ENST00000358385.12:c.1222A>G MANE Select	ENSP00000351155.7:p.Met408Val
ENST00000674288.1:c.*2514A>G	ENSP00000501522.1:n.*2514A>G
ENST00000358385.10:c.1222A>G	ENSP00000351155.6:p.Met408Val
ENST00000441560.6:c.1222A>G	ENSP00000413675.2:p.Met408Val
ENST00000555266.1:c.365A>G	ENSP00000450897.1:n.365A>G
NM_001127713.1:c.1222A>G	NP_001121185.1:p.Met408Val
NM_015915.4:c.1222A>G	NP_056999.2:p.Met408Val
NM_181598.3:c.1222A>G	NP_853629.2:p.Met408Val
NM_015915.5:c.1222A>G MANE Select	NP_056999.2:p.Met408Val
NM_181598.4:c.1222A>G	NP_853629.2:p.Met408Val