Canonical Allele Identifier: CA389668888

Gene: ATL1

Linked Data

• ClinVar Variation Id: 471250
• ClinVar RCV Id: RCV000536383
• dbSNP Id: rs1555364247
• MyVariant Identifiers: chr14:g.51062314A>C (hg19) ; chr14:g.50595596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50595596A>C , CM000676.2:g.50595596A>C	GRCh38
NC_000014.8:g.51062314A>C , CM000676.1:g.51062314A>C	GRCh37
NC_000014.7:g.50132064A>C	NCBI36
NG_009028.1:g.67515A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.594A>C	ENSP00000450989.2:p.Arg198Ser
ENST00000556478.3:c.594A>C	ENSP00000501428.2:p.Arg198Ser
ENST00000682037.1:c.594A>C	ENSP00000508289.1:p.Arg198Ser
ENST00000682219.1:n.1932A>C
ENST00000682487.1:n.928A>C
ENST00000683037.1:n.515A>C
ENST00000683330.1:n.928A>C
ENST00000683703.1:n.928A>C
ENST00000683837.1:n.928A>C
ENST00000358385.12:c.594A>C MANE Select	ENSP00000351155.7:p.Arg198Ser
ENST00000674288.1:c.*1886A>C	ENSP00000501522.1:n.*1886A>C
ENST00000358385.10:c.594A>C	ENSP00000351155.6:p.Arg198Ser
ENST00000441560.6:c.594A>C	ENSP00000413675.2:p.Arg198Ser
ENST00000554886.1:c.162A>C	ENSP00000452074.1:p.Arg54Ser
NM_001127713.1:c.594A>C	NP_001121185.1:p.Arg198Ser
NM_015915.4:c.594A>C	NP_056999.2:p.Arg198Ser
NM_181598.3:c.594A>C	NP_853629.2:p.Arg198Ser
NM_015915.5:c.594A>C MANE Select	NP_056999.2:p.Arg198Ser
NM_181598.4:c.594A>C	NP_853629.2:p.Arg198Ser