Canonical Allele Identifier: CA8053427

Gene: SALL1

Linked Data

• ClinVar Variation Id: 3048788
• ClinVar RCV Id: RCV003956763
• dbSNP Id: rs546790476
• ExAC: 16:51175550 C / T
• gnomAD v2: 16-51175550-C-T
• gnomAD v3: 16-51141639-C-T
• gnomAD v4: 16-51141639-C-T
• MyVariant Identifiers: chr16:g.51175550C>T (hg19) ; chr16:g.51141639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141639C>T , CM000678.2:g.51141639C>T	GRCh38
NC_000016.9:g.51175550C>T , CM000678.1:g.51175550C>T	GRCh37
NC_000016.8:g.49733051C>T	NCBI36
NG_007990.1:g.14634G>A , LRG_674:g.14634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.583G>A	ENSP00000407914.2:p.Val195Ile
ENST00000570206.2:c.292G>A	ENSP00000456777.2:p.Val98Ile
ENST00000685868.1:c.583G>A	ENSP00000509873.1:p.Val195Ile
ENST00000690502.1:c.583G>A	ENSP00000510560.1:p.Val195Ile
ENST00000251020.9:c.583G>A MANE Select	ENSP00000251020.4:p.Val195Ile
ENST00000251020.8:c.583G>A	ENSP00000251020.4:p.Val195Ile
ENST00000440970.5:c.292G>A	ENSP00000407914.1:p.Val98Ile
ENST00000566102.1:c.77-4087G>A	ENSP00000455582.1:n.77-4087G>A
ENST00000570206.1:c.292G>A	ENSP00000456777.1:p.Val98Ile
NM_001127892.1:c.292G>A	NP_001121364.1:p.Val98Ile
NM_002968.2:c.583G>A , LRG_674t1:c.583G>A	NP_002959.2:p.Val195Ile
XM_006721241.2:c.583G>A	XP_006721304.1:p.Val195Ile
XM_011523254.1:c.583G>A	XP_011521556.1:p.Val195Ile
XM_011523255.1:c.583G>A	XP_011521557.1:p.Val195Ile
NM_002968.3:c.583G>A MANE Select	NP_002959.2:p.Val195Ile
NM_001127892.2:c.292G>A	NP_001121364.1:p.Val98Ile