Canonical Allele Identifier: CA7180466

Gene: ATL1

Linked Data

• dbSNP Id: rs748226697
• ExAC: 14:51094956 C / T
• gnomAD v2: 14-51094956-C-T
• MyVariant Identifiers: chr14:g.51094956C>T (hg19) ; chr14:g.50628238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628238C>T , CM000676.2:g.50628238C>T	GRCh38
NC_000014.8:g.51094956C>T , CM000676.1:g.51094956C>T	GRCh37
NC_000014.7:g.50164706C>T	NCBI36
NG_009028.1:g.100157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1327C>T	ENSP00000450989.2:p.His443Tyr
ENST00000556478.3:c.1327C>T	ENSP00000501428.2:p.His443Tyr
ENST00000682037.1:c.1327C>T	ENSP00000508289.1:p.His443Tyr
ENST00000682219.1:n.2665C>T
ENST00000683037.1:n.1248C>T
ENST00000683330.1:n.1661C>T
ENST00000358385.12:c.1327C>T MANE Select	ENSP00000351155.7:p.His443Tyr
ENST00000674288.1:c.*2619C>T	ENSP00000501522.1:n.*2619C>T
ENST00000358385.10:c.1327C>T	ENSP00000351155.6:p.His443Tyr
ENST00000441560.6:c.1327C>T	ENSP00000413675.2:p.His443Tyr
ENST00000556067.1:c.73C>T	ENSP00000451100.1:p.His25Tyr
NM_001127713.1:c.1327C>T	NP_001121185.1:p.His443Tyr
NM_015915.4:c.1327C>T	NP_056999.2:p.His443Tyr
NM_181598.3:c.1327C>T	NP_853629.2:p.His443Tyr
NM_015915.5:c.1327C>T MANE Select	NP_056999.2:p.His443Tyr
NM_181598.4:c.1327C>T	NP_853629.2:p.His443Tyr