Canonical Allele Identifier: CA16042991
Gene: SALL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373001
ClinVar RCV Id: RCV000413349
dbSNP Id: rs1057518131

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51139068G>A , CM000678.2:g.51139068G>A GRCh38
NC_000016.9:g.51172979G>A , CM000678.1:g.51172979G>A GRCh37
NC_000016.8:g.49730480G>A NCBI36
NG_007990.1:g.17205C>T , LRG_674:g.17205C>T

Transcript Alleles

HGVS Amino-acid change
NM_001127892.1:c.2863C>T VV NP_001121364.1:p.Gln955Ter
NM_002968.2:c.3154C>T , LRG_674t1:c.3154C>T NP_002959.2:p.Gln1052Ter
XM_006721241.2:c.3154C>T XP_006721304.1:p.Gln1052Ter
XM_011523254.1:c.3154C>T XP_011521556.1:p.Gln1052Ter
XM_011523255.1:c.3154C>T XP_011521557.1:p.Gln1052Ter
ENST00000251020.8:c.3154C>T ENSP00000251020.4:p.Gln1052Ter
ENST00000440970.5:c.2863C>T ENSP00000407914.1:p.Gln955Ter
ENST00000566102.1:n.77-1516C>T ENSP00000455582.1:p.=
ENST00000570206.1:c.2863C>T ENSP00000456777.1:p.Gln955Ter