Canonical Allele Identifier: CA8053039

Gene: SALL1

Linked Data

• ClinVar Variation Id: 3025861
• ClinVar RCV Id: RCV003885249
• dbSNP Id: rs779974242
• ExAC: 16:51173330 T / A
• gnomAD v2: 16-51173330-T-A
• gnomAD v3: 16-51139419-T-A
• gnomAD v4: 16-51139419-T-A
• MyVariant Identifiers: chr16:g.51173330T>A (hg19) ; chr16:g.51139419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139419T>A , CM000678.2:g.51139419T>A	GRCh38
NC_000016.9:g.51173330T>A , CM000678.1:g.51173330T>A	GRCh37
NC_000016.8:g.49730831T>A	NCBI36
NG_007990.1:g.16854A>T , LRG_674:g.16854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.2803A>T	ENSP00000407914.2:p.Thr935Ser
ENST00000570206.2:c.2512A>T	ENSP00000456777.2:p.Thr838Ser
ENST00000685868.1:c.2803A>T	ENSP00000509873.1:p.Thr935Ser
ENST00000690502.1:c.2803A>T	ENSP00000510560.1:p.Thr935Ser
ENST00000251020.9:c.2803A>T MANE Select	ENSP00000251020.4:p.Thr935Ser
ENST00000251020.8:c.2803A>T	ENSP00000251020.4:p.Thr935Ser
ENST00000440970.5:c.2512A>T	ENSP00000407914.1:p.Thr838Ser
ENST00000566102.1:c.77-1867A>T	ENSP00000455582.1:n.77-1867A>T
ENST00000570206.1:c.2512A>T	ENSP00000456777.1:p.Thr838Ser
NM_001127892.1:c.2512A>T	NP_001121364.1:p.Thr838Ser
NM_002968.2:c.2803A>T , LRG_674t1:c.2803A>T	NP_002959.2:p.Thr935Ser
XM_006721241.2:c.2803A>T	XP_006721304.1:p.Thr935Ser
XM_011523254.1:c.2803A>T	XP_011521556.1:p.Thr935Ser
XM_011523255.1:c.2803A>T	XP_011521557.1:p.Thr935Ser
NM_002968.3:c.2803A>T MANE Select	NP_002959.2:p.Thr935Ser
NM_001127892.2:c.2512A>T	NP_001121364.1:p.Thr838Ser