Canonical Allele Identifier: CA340234

Gene: ATL1

Linked Data

• ClinVar Variation Id: 4353
• ClinVar RCV Id: RCV000004601
• dbSNP Id: rs119476051
• MyVariant Identifiers: chr14:g.51058305T>G (hg19) ; chr14:g.50591587T>G (hg38)
• PubMed: PMID:16533974 ; PMID:20862796

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50591587T>G , CM000676.2:g.50591587T>G	GRCh38
NC_000014.8:g.51058305T>G , CM000676.1:g.51058305T>G	GRCh37
NC_000014.7:g.50128055T>G	NCBI36
NG_009028.1:g.63506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.470T>G	ENSP00000450989.2:p.Leu157Trp
ENST00000553746.2:n.2428T>G
ENST00000556478.3:c.470T>G	ENSP00000501428.2:p.Leu157Trp
ENST00000682037.1:c.470T>G	ENSP00000508289.1:p.Leu157Trp
ENST00000682219.1:n.1808T>G
ENST00000682226.1:n.804T>G
ENST00000682487.1:n.804T>G
ENST00000683330.1:n.804T>G
ENST00000683703.1:n.804T>G
ENST00000683837.1:n.804T>G
ENST00000684737.1:n.804T>G
ENST00000358385.12:c.470T>G MANE Select	ENSP00000351155.7:p.Leu157Trp
ENST00000674288.1:c.*1762T>G	ENSP00000501522.1:n.*1762T>G
ENST00000674478.1:n.804T>G
ENST00000358385.10:c.470T>G	ENSP00000351155.6:p.Leu157Trp
ENST00000441560.6:c.470T>G	ENSP00000413675.2:p.Leu157Trp
ENST00000553746.1:n.140T>G
ENST00000554886.1:c.38T>G	ENSP00000452074.1:p.Leu13Trp
NM_001127713.1:c.470T>G	NP_001121185.1:p.Leu157Trp
NM_015915.4:c.470T>G	NP_056999.2:p.Leu157Trp
NM_181598.3:c.470T>G	NP_853629.2:p.Leu157Trp
NM_015915.5:c.470T>G MANE Select	NP_056999.2:p.Leu157Trp
NM_181598.4:c.470T>G	NP_853629.2:p.Leu157Trp