Canonical Allele Identifier: CA129352

Gene: ATL1

Linked Data

• ClinVar Variation Id: 30580
• ClinVar RCV Id: RCV000023543 ; RCV000236565 ; RCV000543629 ; RCV002415427
• dbSNP Id: rs200314808
• ExAC: 14:51054710 G / C
• gnomAD v2: 14-51054710-G-C
• gnomAD v3: 14-50587992-G-C
• gnomAD v4: 14-50587992-G-C
• MyVariant Identifiers: chr14:g.51054710G>C (hg19) ; chr14:g.50587992G>C (hg38)
• PubMed: PMID:21194679

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50587992G>C , CM000676.2:g.50587992G>C	GRCh38
NC_000014.8:g.51054710G>C , CM000676.1:g.51054710G>C	GRCh37
NC_000014.7:g.50124460G>C	NCBI36
NG_009028.1:g.59911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.196G>C	ENSP00000450989.2:p.Glu66Gln
ENST00000553746.2:n.397G>C
ENST00000556478.3:c.196G>C	ENSP00000501428.2:p.Glu66Gln
ENST00000682037.1:c.196G>C	ENSP00000508289.1:p.Glu66Gln
ENST00000682219.1:n.1075G>C
ENST00000682226.1:n.530G>C
ENST00000682487.1:n.530G>C
ENST00000683330.1:n.530G>C
ENST00000683703.1:n.530G>C
ENST00000683837.1:n.530G>C
ENST00000684737.1:n.530G>C
ENST00000358385.12:c.196G>C MANE Select	ENSP00000351155.7:p.Glu66Gln
ENST00000674288.1:c.196G>C	ENSP00000501522.1:p.Glu66Gln
ENST00000674478.1:n.530G>C
ENST00000674503.1:c.-54G>C	ENSP00000501520.1:n.-54G>C
ENST00000358385.10:c.196G>C	ENSP00000351155.6:p.Glu66Gln
ENST00000441560.6:c.196G>C	ENSP00000413675.2:p.Glu66Gln
ENST00000554886.1:c.-150-2949G>C	ENSP00000452074.1:n.-150-2949G>C
ENST00000555960.5:c.196G>C	ENSP00000452506.1:p.Glu66Gln
ENST00000557735.1:c.-54G>C	ENSP00000451015.1:n.-54G>C
NM_001127713.1:c.196G>C	NP_001121185.1:p.Glu66Gln
NM_015915.4:c.196G>C	NP_056999.2:p.Glu66Gln
NM_181598.3:c.196G>C	NP_853629.2:p.Glu66Gln
NM_015915.5:c.196G>C MANE Select	NP_056999.2:p.Glu66Gln
NM_181598.4:c.196G>C	NP_853629.2:p.Glu66Gln