Canonical Allele Identifier: CA8052821

Gene: SALL1

Linked Data

• ClinVar Variation Id: 258871
• ClinVar RCV Id: RCV001520813 ; RCV001640526
• dbSNP Id: rs4614723
• ExAC: 16:51171175 C / T
• gnomAD v2: 16-51171175-C-T
• gnomAD v3: 16-51137264-C-T
• gnomAD v4: 16-51137264-C-T
• MyVariant Identifiers: chr16:g.51171175C>T (hg19) ; chr16:g.51137264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51137264C>T , CM000678.2:g.51137264C>T	GRCh38
NC_000016.9:g.51171175C>T , CM000678.1:g.51171175C>T	GRCh37
NC_000016.8:g.49728676C>T	NCBI36
NG_007990.1:g.19009G>A , LRG_674:g.19009G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.3823G>A	ENSP00000407914.2:p.Val1275Ile
ENST00000570206.2:c.3532G>A	ENSP00000456777.2:p.Val1178Ile
ENST00000685868.1:c.3823G>A	ENSP00000509873.1:p.Val1275Ile
ENST00000251020.9:c.3823G>A MANE Select	ENSP00000251020.4:p.Val1275Ile
ENST00000251020.8:c.3823G>A	ENSP00000251020.4:p.Val1275Ile
ENST00000440970.5:c.3532G>A	ENSP00000407914.1:p.Val1178Ile
ENST00000566102.1:c.365G>A	ENSP00000455582.1:n.365G>A
NM_001127892.1:c.3532G>A	NP_001121364.1:p.Val1178Ile
NM_002968.2:c.3823G>A , LRG_674t1:c.3823G>A	NP_002959.2:p.Val1275Ile
XM_006721241.2:c.3823G>A	XP_006721304.1:p.Val1275Ile
XM_011523254.1:c.3823G>A	XP_011521556.1:p.Val1275Ile
XM_011523255.1:c.3823G>A	XP_011521557.1:p.Val1275Ile
NM_002968.3:c.3823G>A MANE Select	NP_002959.2:p.Val1275Ile
NM_001127892.2:c.3532G>A	NP_001121364.1:p.Val1178Ile