Canonical Allele Identifier: CA389667753

Gene: ATL1

Linked Data

• ClinVar Variation Id: 2626787
• ClinVar RCV Id: RCV003384313
• MyVariant Identifiers: chr14:g.51058358G>T (hg19) ; chr14:g.50591640G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50591640G>T , CM000676.2:g.50591640G>T	GRCh38
NC_000014.8:g.51058358G>T , CM000676.1:g.51058358G>T	GRCh37
NC_000014.7:g.50128108G>T	NCBI36
NG_009028.1:g.63559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.522+1G>T	ENSP00000450989.2:n.522+1G>T
ENST00000553746.2:n.2481G>T
ENST00000556478.3:c.522+1G>T	ENSP00000501428.2:n.522+1G>T
ENST00000682037.1:c.522+1G>T	ENSP00000508289.1:n.522+1G>T
ENST00000682219.1:n.1860+1G>T
ENST00000682226.1:n.857G>T
ENST00000682487.1:n.856+1G>T
ENST00000683330.1:n.856+1G>T
ENST00000683703.1:n.856+1G>T
ENST00000683837.1:n.856+1G>T
ENST00000684737.1:n.856+1G>T
ENST00000358385.12:c.522+1G>T MANE Select	ENSP00000351155.7:n.522+1G>T
ENST00000674288.1:c.*1814+1G>T	ENSP00000501522.1:n.*1814+1G>T
ENST00000674478.1:n.856+1G>T
ENST00000358385.10:c.522+1G>T	ENSP00000351155.6:n.522+1G>T
ENST00000441560.6:c.522+1G>T	ENSP00000413675.2:n.522+1G>T
ENST00000553746.1:n.193G>T
ENST00000554886.1:c.90+1G>T	ENSP00000452074.1:n.90+1G>T
NM_001127713.1:c.522+1G>T	NP_001121185.1:n.522+1G>T
NM_015915.4:c.522+1G>T	NP_056999.2:n.522+1G>T
NM_181598.3:c.522+1G>T	NP_853629.2:n.522+1G>T
NM_015915.5:c.522+1G>T MANE Select	NP_056999.2:n.522+1G>T
NM_181598.4:c.522+1G>T	NP_853629.2:n.522+1G>T