Canonical Allele Identifier: CA340230

Gene: ATL1

Linked Data

• ClinVar Variation Id: 4348
• ClinVar RCV Id: RCV000004596
• dbSNP Id: rs119476048
• MyVariant Identifiers: chr14:g.51081140A>G (hg19) ; chr14:g.50614422A>G (hg38)
• PubMed: PMID:11685207 ; PMID:20862796

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50614422A>G , CM000676.2:g.50614422A>G	GRCh38
NC_000014.8:g.51081140A>G , CM000676.1:g.51081140A>G	GRCh37
NC_000014.7:g.50150890A>G	NCBI36
NG_009028.1:g.86341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.773A>G	ENSP00000450989.2:p.His258Arg
ENST00000556478.3:c.773A>G	ENSP00000501428.2:p.His258Arg
ENST00000682037.1:c.773A>G	ENSP00000508289.1:p.His258Arg
ENST00000682219.1:n.2111A>G
ENST00000682487.1:n.1107A>G
ENST00000683037.1:n.694A>G
ENST00000683330.1:n.1107A>G
ENST00000683837.1:n.1107A>G
ENST00000358385.12:c.773A>G MANE Select	ENSP00000351155.7:p.His258Arg
ENST00000674288.1:c.*2065A>G	ENSP00000501522.1:n.*2065A>G
ENST00000358385.10:c.773A>G	ENSP00000351155.6:p.His258Arg
ENST00000441560.6:c.773A>G	ENSP00000413675.2:p.His258Arg
ENST00000555266.1:c.44A>G	ENSP00000450897.1:p.His15Arg
NM_001127713.1:c.773A>G	NP_001121185.1:p.His258Arg
NM_015915.4:c.773A>G	NP_056999.2:p.His258Arg
NM_181598.3:c.773A>G	NP_853629.2:p.His258Arg
NM_015915.5:c.773A>G MANE Select	NP_056999.2:p.His258Arg
NM_181598.4:c.773A>G	NP_853629.2:p.His258Arg