Canonical Allele Identifier: CA389676084

Gene: ATL1

Linked Data

• dbSNP Id: rs1366897825
• gnomAD v2: 14-51094972-C-A
• gnomAD v4: 14-50628254-C-A
• MyVariant Identifiers: chr14:g.51094972C>A (hg19) ; chr14:g.50628254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628254C>A , CM000676.2:g.50628254C>A	GRCh38
NC_000014.8:g.51094972C>A , CM000676.1:g.51094972C>A	GRCh37
NC_000014.7:g.50164722C>A	NCBI36
NG_009028.1:g.100173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1343C>A	ENSP00000450989.2:p.Pro448Gln
ENST00000556478.3:c.1343C>A	ENSP00000501428.2:p.Pro448Gln
ENST00000682037.1:c.1343C>A	ENSP00000508289.1:p.Pro448Gln
ENST00000682219.1:n.2681C>A
ENST00000683037.1:n.1264C>A
ENST00000683330.1:n.1677C>A
ENST00000358385.12:c.1343C>A MANE Select	ENSP00000351155.7:p.Pro448Gln
ENST00000674288.1:c.*2635C>A	ENSP00000501522.1:n.*2635C>A
ENST00000358385.10:c.1343C>A	ENSP00000351155.6:p.Pro448Gln
ENST00000441560.6:c.1343C>A	ENSP00000413675.2:p.Pro448Gln
ENST00000556067.1:c.89C>A	ENSP00000451100.1:p.Pro30Gln
NM_001127713.1:c.1343C>A	NP_001121185.1:p.Pro448Gln
NM_015915.4:c.1343C>A	NP_056999.2:p.Pro448Gln
NM_181598.3:c.1343C>A	NP_853629.2:p.Pro448Gln
NM_015915.5:c.1343C>A MANE Select	NP_056999.2:p.Pro448Gln
NM_181598.4:c.1343C>A	NP_853629.2:p.Pro448Gln