Canonical Allele Identifier: CA395883453

Gene: SALL1

Linked Data

• ClinVar Variation Id: 2163614
• ClinVar RCV Id: RCV003092410
• dbSNP Id: rs1327544170
• gnomAD v2: 16-51173263-G-C
• gnomAD v4: 16-51139352-G-C
• MyVariant Identifiers: chr16:g.51173263G>C (hg19) ; chr16:g.51139352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139352G>C , CM000678.2:g.51139352G>C	GRCh38
NC_000016.9:g.51173263G>C , CM000678.1:g.51173263G>C	GRCh37
NC_000016.8:g.49730764G>C	NCBI36
NG_007990.1:g.16921C>G , LRG_674:g.16921C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.2870C>G	ENSP00000407914.2:p.Ala957Gly
ENST00000570206.2:c.2579C>G	ENSP00000456777.2:p.Ala860Gly
ENST00000685868.1:c.2870C>G	ENSP00000509873.1:p.Ala957Gly
ENST00000690502.1:c.2870C>G	ENSP00000510560.1:p.Ala957Gly
ENST00000251020.9:c.2870C>G MANE Select	ENSP00000251020.4:p.Ala957Gly
ENST00000251020.8:c.2870C>G	ENSP00000251020.4:p.Ala957Gly
ENST00000440970.5:c.2579C>G	ENSP00000407914.1:p.Ala860Gly
ENST00000566102.1:c.77-1800C>G	ENSP00000455582.1:n.77-1800C>G
ENST00000570206.1:c.2579C>G	ENSP00000456777.1:p.Ala860Gly
NM_001127892.1:c.2579C>G	NP_001121364.1:p.Ala860Gly
NM_002968.2:c.2870C>G , LRG_674t1:c.2870C>G	NP_002959.2:p.Ala957Gly
XM_006721241.2:c.2870C>G	XP_006721304.1:p.Ala957Gly
XM_011523254.1:c.2870C>G	XP_011521556.1:p.Ala957Gly
XM_011523255.1:c.2870C>G	XP_011521557.1:p.Ala957Gly
NM_002968.3:c.2870C>G MANE Select	NP_002959.2:p.Ala957Gly
NM_001127892.2:c.2579C>G	NP_001121364.1:p.Ala860Gly