Canonical Allele Identifier: CA389675903

Gene: ATL1

Linked Data

• dbSNP Id: rs760583854
• gnomAD v2: 14-51094897-G-T
• gnomAD v4: 14-50628179-G-T
• MyVariant Identifiers: chr14:g.51094897G>T (hg19) ; chr14:g.50628179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628179G>T , CM000676.2:g.50628179G>T	GRCh38
NC_000014.8:g.51094897G>T , CM000676.1:g.51094897G>T	GRCh37
NC_000014.7:g.50164647G>T	NCBI36
NG_009028.1:g.100098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1268G>T	ENSP00000450989.2:p.Ser423Ile
ENST00000556478.3:c.1268G>T	ENSP00000501428.2:p.Ser423Ile
ENST00000682037.1:c.1268G>T	ENSP00000508289.1:p.Ser423Ile
ENST00000682219.1:n.2606G>T
ENST00000683037.1:n.1189G>T
ENST00000683330.1:n.1602G>T
ENST00000358385.12:c.1268G>T MANE Select	ENSP00000351155.7:p.Ser423Ile
ENST00000674288.1:c.*2560G>T	ENSP00000501522.1:n.*2560G>T
ENST00000358385.10:c.1268G>T	ENSP00000351155.6:p.Ser423Ile
ENST00000441560.6:c.1268G>T	ENSP00000413675.2:p.Ser423Ile
ENST00000556067.1:c.14G>T	ENSP00000451100.1:p.Ser5Ile
NM_001127713.1:c.1268G>T	NP_001121185.1:p.Ser423Ile
NM_015915.4:c.1268G>T	NP_056999.2:p.Ser423Ile
NM_181598.3:c.1268G>T	NP_853629.2:p.Ser423Ile
NM_015915.5:c.1268G>T MANE Select	NP_056999.2:p.Ser423Ile
NM_181598.4:c.1268G>T	NP_853629.2:p.Ser423Ile