Canonical Allele Identifier: CA260794913

Gene: ATL1

Linked Data

• dbSNP Id: rs766655944
• gnomAD v4: 14-50628387-A-G
• MyVariant Identifiers: chr14:g.51095105A>G (hg19) ; chr14:g.50628387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628387A>G , CM000676.2:g.50628387A>G	GRCh38
NC_000014.8:g.51095105A>G , CM000676.1:g.51095105A>G	GRCh37
NC_000014.7:g.50164855A>G	NCBI36
NG_009028.1:g.100306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1476A>G	ENSP00000450989.2:p.Ala492=
ENST00000556478.3:c.1476A>G	ENSP00000501428.2:p.Ala492=
ENST00000682037.1:c.1476A>G	ENSP00000508289.1:p.Ala492=
ENST00000682219.1:n.2814A>G
ENST00000683037.1:n.1397A>G
ENST00000683330.1:n.1810A>G
ENST00000358385.12:c.1476A>G MANE Select	ENSP00000351155.7:p.Ala492=
ENST00000674288.1:c.*2768A>G	ENSP00000501522.1:n.*2768A>G
ENST00000358385.10:c.1476A>G	ENSP00000351155.6:p.Ala492=
ENST00000441560.6:c.1476A>G	ENSP00000413675.2:p.Ala492=
ENST00000556067.1:c.222A>G	ENSP00000451100.1:p.Ala74=
NM_001127713.1:c.1476A>G	NP_001121185.1:p.Ala492=
NM_015915.4:c.1476A>G	NP_056999.2:p.Ala492=
NM_181598.3:c.1476A>G	NP_853629.2:p.Ala492=
NM_015915.5:c.1476A>G MANE Select	NP_056999.2:p.Ala492=
NM_181598.4:c.1476A>G	NP_853629.2:p.Ala492=