Canonical Allele Identifier: CA350143

Gene: ATL1

Linked Data

• ClinVar Variation Id: 220424
• ClinVar RCV Id: RCV000206078 ; RCV000235294 ; RCV001847933
• dbSNP Id: rs864622520
• gnomAD v4: 14-50614406-G-A
• MyVariant Identifiers: chr14:g.51081124G>A (hg19) ; chr14:g.50614406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50614406G>A , CM000676.2:g.50614406G>A	GRCh38
NC_000014.8:g.51081124G>A , CM000676.1:g.51081124G>A	GRCh37
NC_000014.7:g.50150874G>A	NCBI36
NG_009028.1:g.86325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.757G>A	ENSP00000450989.2:p.Val253Ile
ENST00000556478.3:c.757G>A	ENSP00000501428.2:p.Val253Ile
ENST00000682037.1:c.757G>A	ENSP00000508289.1:p.Val253Ile
ENST00000682219.1:n.2095G>A
ENST00000682487.1:n.1091G>A
ENST00000683037.1:n.678G>A
ENST00000683330.1:n.1091G>A
ENST00000683837.1:n.1091G>A
ENST00000358385.12:c.757G>A MANE Select	ENSP00000351155.7:p.Val253Ile
ENST00000674288.1:c.*2049G>A	ENSP00000501522.1:n.*2049G>A
ENST00000358385.10:c.757G>A	ENSP00000351155.6:p.Val253Ile
ENST00000441560.6:c.757G>A	ENSP00000413675.2:p.Val253Ile
ENST00000555266.1:c.28G>A	ENSP00000450897.1:p.Val10Ile
NM_001127713.1:c.757G>A	NP_001121185.1:p.Val253Ile
NM_015915.4:c.757G>A	NP_056999.2:p.Val253Ile
NM_181598.3:c.757G>A	NP_853629.2:p.Val253Ile
NM_015915.5:c.757G>A MANE Select	NP_056999.2:p.Val253Ile
NM_181598.4:c.757G>A	NP_853629.2:p.Val253Ile