Canonical Allele Identifier: CA7180371

Gene: ATL1

Linked Data

• ClinVar Variation Id: 313302
• ClinVar RCV Id: RCV000333856 ; RCV001435351 ; RCV002374532
• dbSNP Id: rs753145983
• ExAC: 14:51087423 G / C
• gnomAD v2: 14-51087423-G-C
• gnomAD v3: 14-50620705-G-C
• gnomAD v4: 14-50620705-G-C
• MyVariant Identifiers: chr14:g.51087423G>C (hg19) ; chr14:g.50620705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50620705G>C , CM000676.2:g.50620705G>C	GRCh38
NC_000014.8:g.51087423G>C , CM000676.1:g.51087423G>C	GRCh37
NC_000014.7:g.50157173G>C	NCBI36
NG_009028.1:g.92624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.969G>C	ENSP00000450989.2:p.Arg323=
ENST00000556478.3:c.969G>C	ENSP00000501428.2:p.Arg323=
ENST00000682037.1:c.969G>C	ENSP00000508289.1:p.Arg323=
ENST00000682219.1:n.2307G>C
ENST00000682487.1:n.1303G>C
ENST00000683037.1:n.890G>C
ENST00000683330.1:n.1303G>C
ENST00000683837.1:n.1303G>C
ENST00000358385.12:c.969G>C MANE Select	ENSP00000351155.7:p.Arg323=
ENST00000674288.1:c.*2261G>C	ENSP00000501522.1:n.*2261G>C
ENST00000358385.10:c.969G>C	ENSP00000351155.6:p.Arg323=
ENST00000441560.6:c.969G>C	ENSP00000413675.2:p.Arg323=
ENST00000555266.1:c.134-1138G>C	ENSP00000450897.1:n.134-1138G>C
NM_001127713.1:c.969G>C	NP_001121185.1:p.Arg323=
NM_015915.4:c.969G>C	NP_056999.2:p.Arg323=
NM_181598.3:c.969G>C	NP_853629.2:p.Arg323=
NM_015915.5:c.969G>C MANE Select	NP_056999.2:p.Arg323=
NM_181598.4:c.969G>C	NP_853629.2:p.Arg323=