Canonical Allele Identifier: CA16614191

Gene: ATL1

Linked Data

• ClinVar Variation Id: 410596
• ClinVar RCV Id: RCV000469923 ; RCV001526629
• dbSNP Id: rs1060502971
• MyVariant Identifiers: chr14:g.51058296A>G (hg19) ; chr14:g.50591578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50591578A>G , CM000676.2:g.50591578A>G	GRCh38
NC_000014.8:g.51058296A>G , CM000676.1:g.51058296A>G	GRCh37
NC_000014.7:g.50128046A>G	NCBI36
NG_009028.1:g.63497A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.461A>G	ENSP00000450989.2:p.Gln154Arg
ENST00000553746.2:n.2419A>G
ENST00000556478.3:c.461A>G	ENSP00000501428.2:p.Gln154Arg
ENST00000682037.1:c.461A>G	ENSP00000508289.1:p.Gln154Arg
ENST00000682219.1:n.1799A>G
ENST00000682226.1:n.795A>G
ENST00000682487.1:n.795A>G
ENST00000683330.1:n.795A>G
ENST00000683703.1:n.795A>G
ENST00000683837.1:n.795A>G
ENST00000684737.1:n.795A>G
ENST00000358385.12:c.461A>G MANE Select	ENSP00000351155.7:p.Gln154Arg
ENST00000674288.1:c.*1753A>G	ENSP00000501522.1:n.*1753A>G
ENST00000674478.1:n.795A>G
ENST00000358385.10:c.461A>G	ENSP00000351155.6:p.Gln154Arg
ENST00000441560.6:c.461A>G	ENSP00000413675.2:p.Gln154Arg
ENST00000553746.1:n.131A>G
ENST00000554886.1:c.29A>G	ENSP00000452074.1:p.Gln10Arg
NM_001127713.1:c.461A>G	NP_001121185.1:p.Gln154Arg
NM_015915.4:c.461A>G	NP_056999.2:p.Gln154Arg
NM_181598.3:c.461A>G	NP_853629.2:p.Gln154Arg
NM_015915.5:c.461A>G MANE Select	NP_056999.2:p.Gln154Arg
NM_181598.4:c.461A>G	NP_853629.2:p.Gln154Arg