Canonical Allele Identifier: CA389674137

Gene: ATL1

Linked Data

• ClinVar Variation Id: 30579
• ClinVar RCV Id: RCV000023542 ; RCV000626932 ; RCV000789726
• dbSNP Id: rs1555365597
• MyVariant Identifiers: chr14:g.51089912C>A (hg19) ; chr14:g.50623194C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50623194C>A , CM000676.2:g.50623194C>A	GRCh38
NC_000014.8:g.51089912C>A , CM000676.1:g.51089912C>A	GRCh37
NC_000014.7:g.50159662C>A	NCBI36
NG_009028.1:g.95113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1065C>A	ENSP00000450989.2:p.Asn355Lys
ENST00000556478.3:c.1065C>A	ENSP00000501428.2:p.Asn355Lys
ENST00000682037.1:c.1065C>A	ENSP00000508289.1:p.Asn355Lys
ENST00000682219.1:n.2403C>A
ENST00000682487.1:n.2676C>A
ENST00000683037.1:n.986C>A
ENST00000683330.1:n.1399C>A
ENST00000683837.1:n.1399C>A
ENST00000358385.12:c.1065C>A MANE Select	ENSP00000351155.7:p.Asn355Lys
ENST00000674288.1:c.*2357C>A	ENSP00000501522.1:n.*2357C>A
ENST00000358385.10:c.1065C>A	ENSP00000351155.6:p.Asn355Lys
ENST00000441560.6:c.1065C>A	ENSP00000413675.2:p.Asn355Lys
ENST00000555266.1:c.208C>A	ENSP00000450897.1:n.208C>A
NM_001127713.1:c.1065C>A	NP_001121185.1:p.Asn355Lys
NM_015915.4:c.1065C>A	NP_056999.2:p.Asn355Lys
NM_181598.3:c.1065C>A	NP_853629.2:p.Asn355Lys
NM_015915.5:c.1065C>A MANE Select	NP_056999.2:p.Asn355Lys
NM_181598.4:c.1065C>A	NP_853629.2:p.Asn355Lys