Canonical Allele Identifier: CA495780331

Gene: SALL1

Linked Data

• dbSNP Id: rs1200946310
• gnomAD v2: 16-51173562-G-A
• gnomAD v3: 16-51139651-G-A
• gnomAD v4: 16-51139651-G-A
• MyVariant Identifiers: chr16:g.51173562G>A (hg19) ; chr16:g.51139651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139651G>A , CM000678.2:g.51139651G>A	GRCh38
NC_000016.9:g.51173562G>A , CM000678.1:g.51173562G>A	GRCh37
NC_000016.8:g.49731063G>A	NCBI36
NG_007990.1:g.16622C>T , LRG_674:g.16622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.2571C>T	ENSP00000407914.2:p.Pro857=
ENST00000570206.2:c.2280C>T	ENSP00000456777.2:p.Pro760=
ENST00000685868.1:c.2571C>T	ENSP00000509873.1:p.Pro857=
ENST00000690502.1:c.2571C>T	ENSP00000510560.1:p.Pro857=
ENST00000251020.9:c.2571C>T MANE Select	ENSP00000251020.4:p.Pro857=
ENST00000251020.8:c.2571C>T	ENSP00000251020.4:p.Pro857=
ENST00000440970.5:c.2280C>T	ENSP00000407914.1:p.Pro760=
ENST00000566102.1:c.77-2099C>T	ENSP00000455582.1:n.77-2099C>T
ENST00000570206.1:c.2280C>T	ENSP00000456777.1:p.Pro760=
NM_001127892.1:c.2280C>T	NP_001121364.1:p.Pro760=
NM_002968.2:c.2571C>T , LRG_674t1:c.2571C>T	NP_002959.2:p.Pro857=
XM_006721241.2:c.2571C>T	XP_006721304.1:p.Pro857=
XM_011523254.1:c.2571C>T	XP_011521556.1:p.Pro857=
XM_011523255.1:c.2571C>T	XP_011521557.1:p.Pro857=
NM_002968.3:c.2571C>T MANE Select	NP_002959.2:p.Pro857=
NM_001127892.2:c.2280C>T	NP_001121364.1:p.Pro760=