Canonical Allele Identifier: CA247289

Gene: ATL1

Linked Data

• ClinVar Variation Id: 198566
• ClinVar RCV Id: RCV000724713 ; RCV001081633 ; RCV003947533
• dbSNP Id: rs186528086
• ExAC: 14:51079970 T / A
• gnomAD v2: 14-51079970-T-A
• gnomAD v3: 14-50613252-T-A
• gnomAD v4: 14-50613252-T-A
• MyVariant Identifiers: chr14:g.51079970T>A (hg19) ; chr14:g.50613252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50613252T>A , CM000676.2:g.50613252T>A	GRCh38
NC_000014.8:g.51079970T>A , CM000676.1:g.51079970T>A	GRCh37
NC_000014.7:g.50149720T>A	NCBI36
NG_009028.1:g.85171T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.631-7T>A	ENSP00000450989.2:n.631-7T>A
ENST00000556478.3:c.631-7T>A	ENSP00000501428.2:n.631-7T>A
ENST00000682037.1:c.631-7T>A	ENSP00000508289.1:n.631-7T>A
ENST00000682219.1:n.1969-7T>A
ENST00000682487.1:n.965-7T>A
ENST00000683037.1:n.552-7T>A
ENST00000683330.1:n.965-7T>A
ENST00000683837.1:n.965-7T>A
ENST00000358385.12:c.631-7T>A MANE Select	ENSP00000351155.7:n.631-7T>A
ENST00000674288.1:c.*1923-7T>A	ENSP00000501522.1:n.*1923-7T>A
ENST00000358385.10:c.631-7T>A	ENSP00000351155.6:n.631-7T>A
ENST00000441560.6:c.631-7T>A	ENSP00000413675.2:n.631-7T>A
ENST00000554886.1:c.199-7T>A	ENSP00000452074.1:n.199-7T>A
NM_001127713.1:c.631-7T>A	NP_001121185.1:n.631-7T>A
NM_015915.4:c.631-7T>A	NP_056999.2:n.631-7T>A
NM_181598.3:c.631-7T>A	NP_853629.2:n.631-7T>A
NM_015915.5:c.631-7T>A MANE Select	NP_056999.2:n.631-7T>A
NM_181598.4:c.631-7T>A	NP_853629.2:n.631-7T>A