Canonical Allele Identifier: CA8053408
Gene: SALL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 319612
ClinVar RCV Id: RCV000513820
dbSNP Id: rs149603480
COSMIC: COSM190674

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141546C>T , CM000678.2:g.51141546C>T GRCh38
NC_000016.9:g.51175457C>T , CM000678.1:g.51175457C>T GRCh37
NC_000016.8:g.49732958C>T NCBI36
NG_007990.1:g.14727G>A , LRG_674:g.14727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000440970.6:c.676G>A ENSP00000407914.2:p.Val226Ile
ENST00000570206.2:c.385G>A ENSP00000456777.2:p.Val129Ile
ENST00000685868.1:c.676G>A ENSP00000509873.1:p.Val226Ile
ENST00000690502.1:c.676G>A ENSP00000510560.1:p.Val226Ile
ENST00000251020.9:c.676G>A MANE Select ENSP00000251020.4:p.Val226Ile
ENST00000251020.8:c.676G>A ENSP00000251020.4:p.Val226Ile
ENST00000440970.5:c.385G>A ENSP00000407914.1:p.Val129Ile
ENST00000566102.1:c.77-3994G>A ENSP00000455582.1:n.77-3994G>A
ENST00000570206.1:c.385G>A ENSP00000456777.1:p.Val129Ile
NM_001127892.1:c.385G>A NP_001121364.1:p.Val129Ile
NM_002968.2:c.676G>A , LRG_674t1:c.676G>A NP_002959.2:p.Val226Ile
XM_006721241.2:c.676G>A XP_006721304.1:p.Val226Ile
XM_011523254.1:c.676G>A XP_011521556.1:p.Val226Ile
XM_011523255.1:c.676G>A XP_011521557.1:p.Val226Ile
NM_002968.3:c.676G>A MANE Select NP_002959.2:p.Val226Ile
NM_001127892.2:c.385G>A NP_001121364.1:p.Val129Ile