Canonical Allele Identifier: CA389675836

Gene: ATL1

Linked Data

• ClinVar Variation Id: 2571514
• ClinVar RCV Id: RCV003312914
• MyVariant Identifiers: chr14:g.51094866T>G (hg19) ; chr14:g.50628148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628148T>G , CM000676.2:g.50628148T>G	GRCh38
NC_000014.8:g.51094866T>G , CM000676.1:g.51094866T>G	GRCh37
NC_000014.7:g.50164616T>G	NCBI36
NG_009028.1:g.100067T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553509.2:c.1237T>G	ENSP00000450989.2:p.Phe413Val
ENST00000556478.3:c.1237T>G	ENSP00000501428.2:p.Phe413Val
ENST00000682037.1:c.1237T>G	ENSP00000508289.1:p.Phe413Val
ENST00000682219.1:n.2575T>G
ENST00000683037.1:n.1158T>G
ENST00000683330.1:n.1571T>G
ENST00000358385.12:c.1237T>G MANE Select	ENSP00000351155.7:p.Phe413Val
ENST00000674288.1:c.*2529T>G	ENSP00000501522.1:n.*2529T>G
ENST00000358385.10:c.1237T>G	ENSP00000351155.6:p.Phe413Val
ENST00000441560.6:c.1237T>G	ENSP00000413675.2:p.Phe413Val
ENST00000555266.1:c.380T>G	ENSP00000450897.1:n.380T>G
NM_001127713.1:c.1237T>G	NP_001121185.1:p.Phe413Val
NM_015915.4:c.1237T>G	NP_056999.2:p.Phe413Val
NM_181598.3:c.1237T>G	NP_853629.2:p.Phe413Val
NM_015915.5:c.1237T>G MANE Select	NP_056999.2:p.Phe413Val
NM_181598.4:c.1237T>G	NP_853629.2:p.Phe413Val