Canonical Allele Identifier: CA486190410

Gene: ATL1

Linked Data

• dbSNP Id: rs747362836
• gnomAD v2: 14-51080024-A-C
• gnomAD v4: 14-50613306-A-C
• MyVariant Identifiers: chr14:g.51080024A>C (hg19) ; chr14:g.50613306A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50613306A>C , CM000676.2:g.50613306A>C	GRCh38
NC_000014.8:g.51080024A>C , CM000676.1:g.51080024A>C	GRCh37
NC_000014.7:g.50149774A>C	NCBI36
NG_009028.1:g.85225A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553509.2:c.678A>C	ENSP00000450989.2:p.Ser226=
ENST00000556478.3:c.678A>C	ENSP00000501428.2:p.Ser226=
ENST00000682037.1:c.678A>C	ENSP00000508289.1:p.Ser226=
ENST00000682219.1:n.2016A>C
ENST00000682487.1:n.1012A>C
ENST00000683037.1:n.599A>C
ENST00000683330.1:n.1012A>C
ENST00000683837.1:n.1012A>C
ENST00000358385.12:c.678A>C MANE Select	ENSP00000351155.7:p.Ser226=
ENST00000674288.1:c.*1970A>C	ENSP00000501522.1:n.*1970A>C
ENST00000358385.10:c.678A>C	ENSP00000351155.6:p.Ser226=
ENST00000441560.6:c.678A>C	ENSP00000413675.2:p.Ser226=
NM_001127713.1:c.678A>C	NP_001121185.1:p.Ser226=
NM_015915.4:c.678A>C	NP_056999.2:p.Ser226=
NM_181598.3:c.678A>C	NP_853629.2:p.Ser226=
NM_015915.5:c.678A>C MANE Select	NP_056999.2:p.Ser226=
NM_181598.4:c.678A>C	NP_853629.2:p.Ser226=