Canonical Allele Identifier: CA389675730

Gene: ATL1

Linked Data

• dbSNP Id: rs1442289748
• gnomAD v2: 14-51094836-C-T
• gnomAD v4: 14-50628118-C-T
• COSMIC: COSM956062
• MyVariant Identifiers: chr14:g.51094836C>T (hg19) ; chr14:g.50628118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628118C>T , CM000676.2:g.50628118C>T	GRCh38
NC_000014.8:g.51094836C>T , CM000676.1:g.51094836C>T	GRCh37
NC_000014.7:g.50164586C>T	NCBI36
NG_009028.1:g.100037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1207C>T	ENSP00000450989.2:p.Arg403Ter
ENST00000556478.3:c.1207C>T	ENSP00000501428.2:p.Arg403Ter
ENST00000682037.1:c.1207C>T	ENSP00000508289.1:p.Arg403Ter
ENST00000682219.1:n.2545C>T
ENST00000683037.1:n.1128C>T
ENST00000683330.1:n.1541C>T
ENST00000358385.12:c.1207C>T MANE Select	ENSP00000351155.7:p.Arg403Ter
ENST00000674288.1:c.*2499C>T	ENSP00000501522.1:n.*2499C>T
ENST00000358385.10:c.1207C>T	ENSP00000351155.6:p.Arg403Ter
ENST00000441560.6:c.1207C>T	ENSP00000413675.2:p.Arg403Ter
ENST00000555266.1:c.350C>T	ENSP00000450897.1:n.350C>T
NM_001127713.1:c.1207C>T	NP_001121185.1:p.Arg403Ter
NM_015915.4:c.1207C>T	NP_056999.2:p.Arg403Ter
NM_181598.3:c.1207C>T	NP_853629.2:p.Arg403Ter
NM_015915.5:c.1207C>T MANE Select	NP_056999.2:p.Arg403Ter
NM_181598.4:c.1207C>T	NP_853629.2:p.Arg403Ter