Canonical Allele Identifier: CA389668807

Gene: ATL1

Linked Data

• ClinVar Variation Id: 2816522
• ClinVar RCV Id: RCV003612723
• MyVariant Identifiers: chr14:g.51062294C>G (hg19) ; chr14:g.50595576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50595576C>G , CM000676.2:g.50595576C>G	GRCh38
NC_000014.8:g.51062294C>G , CM000676.1:g.51062294C>G	GRCh37
NC_000014.7:g.50132044C>G	NCBI36
NG_009028.1:g.67495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.574C>G	ENSP00000450989.2:p.Leu192Val
ENST00000556478.3:c.574C>G	ENSP00000501428.2:p.Leu192Val
ENST00000682037.1:c.574C>G	ENSP00000508289.1:p.Leu192Val
ENST00000682219.1:n.1912C>G
ENST00000682487.1:n.908C>G
ENST00000683037.1:n.495C>G
ENST00000683330.1:n.908C>G
ENST00000683703.1:n.908C>G
ENST00000683837.1:n.908C>G
ENST00000358385.12:c.574C>G MANE Select	ENSP00000351155.7:p.Leu192Val
ENST00000674288.1:c.*1866C>G	ENSP00000501522.1:n.*1866C>G
ENST00000358385.10:c.574C>G	ENSP00000351155.6:p.Leu192Val
ENST00000441560.6:c.574C>G	ENSP00000413675.2:p.Leu192Val
ENST00000554886.1:c.142C>G	ENSP00000452074.1:p.Leu48Val
NM_001127713.1:c.574C>G	NP_001121185.1:p.Leu192Val
NM_015915.4:c.574C>G	NP_056999.2:p.Leu192Val
NM_181598.3:c.574C>G	NP_853629.2:p.Leu192Val
NM_015915.5:c.574C>G MANE Select	NP_056999.2:p.Leu192Val
NM_181598.4:c.574C>G	NP_853629.2:p.Leu192Val