Canonical Allele Identifier: CA151940

Gene: ATN1

Linked Data

• ClinVar Variation Id: 128462
• ClinVar RCV Id: RCV000116431 ; RCV001647127
• dbSNP Id: rs7969685
• ExAC: 12:7047143 C / A
• gnomAD v2: 12-7047143-C-A
• gnomAD v3: 12-6937980-C-A
• gnomAD v4: 12-6937980-C-A
• MyVariant Identifiers: chr12:g.7047143C>A (hg19) ; chr12:g.6937980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6937980C>A , CM000674.2:g.6937980C>A	GRCh38
NC_000012.11:g.7047143C>A , CM000674.1:g.7047143C>A	GRCh37
NC_000012.10:g.6917404C>A	NCBI36
NG_008047.1:g.18518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396684.3:c.2430C>A MANE Select	ENSP00000379915.2:p.Arg810=
ENST00000356654.8:c.2430C>A	ENSP00000349076.3:p.Arg810=
ENST00000396684.2:c.2430C>A	ENSP00000379915.2:p.Arg810=
ENST00000541029.1:n.283C>A
NM_001007026.1:c.2430C>A	NP_001007027.1:p.Arg810=
NM_001940.3:c.2430C>A	NP_001931.2:p.Arg810=
NM_001940.4:c.2430C>A MANE Select	NP_001931.2:p.Arg810=
NM_001007026.2:c.2430C>A	NP_001007027.1:p.Arg810=