Canonical Allele Identifier: CA235905

Gene: ATL1

Linked Data

• ClinVar Variation Id: 191046
• ClinVar RCV Id: RCV000171222 ; RCV003987402
• dbSNP Id: rs786205487
• MyVariant Identifiers: chr14:g.51087442A>T (hg19) ; chr14:g.50620724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50620724A>T , CM000676.2:g.50620724A>T	GRCh38
NC_000014.8:g.51087442A>T , CM000676.1:g.51087442A>T	GRCh37
NC_000014.7:g.50157192A>T	NCBI36
NG_009028.1:g.92643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.988A>T	ENSP00000450989.2:p.Lys330Ter
ENST00000556478.3:c.988A>T	ENSP00000501428.2:p.Lys330Ter
ENST00000682037.1:c.988A>T	ENSP00000508289.1:p.Lys330Ter
ENST00000682219.1:n.2326A>T
ENST00000682487.1:n.1322A>T
ENST00000683037.1:n.909A>T
ENST00000683330.1:n.1322A>T
ENST00000683837.1:n.1322A>T
ENST00000358385.12:c.988A>T MANE Select	ENSP00000351155.7:p.Lys330Ter
ENST00000674288.1:c.*2280A>T	ENSP00000501522.1:n.*2280A>T
ENST00000358385.10:c.988A>T	ENSP00000351155.6:p.Lys330Ter
ENST00000441560.6:c.988A>T	ENSP00000413675.2:p.Lys330Ter
ENST00000555266.1:c.134-1119A>T	ENSP00000450897.1:n.134-1119A>T
NM_001127713.1:c.988A>T	NP_001121185.1:p.Lys330Ter
NM_015915.4:c.988A>T	NP_056999.2:p.Lys330Ter
NM_181598.3:c.988A>T	NP_853629.2:p.Lys330Ter
NM_015915.5:c.988A>T MANE Select	NP_056999.2:p.Lys330Ter
NM_181598.4:c.988A>T	NP_853629.2:p.Lys330Ter