Canonical Allele Identifier: CA486193257

Gene: ATL1

Linked Data

• ClinVar Variation Id: 2965565
• ClinVar RCV Id: RCV003825715
• dbSNP Id: rs371411344
• gnomAD v3: 14-50628360-G-C
• gnomAD v4: 14-50628360-G-C
• MyVariant Identifiers: chr14:g.51095078G>C (hg19) ; chr14:g.50628360G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628360G>C , CM000676.2:g.50628360G>C	GRCh38
NC_000014.8:g.51095078G>C , CM000676.1:g.51095078G>C	GRCh37
NC_000014.7:g.50164828G>C	NCBI36
NG_009028.1:g.100279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1449G>C	ENSP00000450989.2:p.Leu483=
ENST00000556478.3:c.1449G>C	ENSP00000501428.2:p.Leu483=
ENST00000682037.1:c.1449G>C	ENSP00000508289.1:p.Leu483=
ENST00000682219.1:n.2787G>C
ENST00000683037.1:n.1370G>C
ENST00000683330.1:n.1783G>C
ENST00000358385.12:c.1449G>C MANE Select	ENSP00000351155.7:p.Leu483=
ENST00000674288.1:c.*2741G>C	ENSP00000501522.1:n.*2741G>C
ENST00000358385.10:c.1449G>C	ENSP00000351155.6:p.Leu483=
ENST00000441560.6:c.1449G>C	ENSP00000413675.2:p.Leu483=
ENST00000556067.1:c.195G>C	ENSP00000451100.1:p.Leu65=
NM_001127713.1:c.1449G>C	NP_001121185.1:p.Leu483=
NM_015915.4:c.1449G>C	NP_056999.2:p.Leu483=
NM_181598.3:c.1449G>C	NP_853629.2:p.Leu483=
NM_015915.5:c.1449G>C MANE Select	NP_056999.2:p.Leu483=
NM_181598.4:c.1449G>C	NP_853629.2:p.Leu483=