Canonical Allele Identifier: CA8053081

Gene: SALL1

Linked Data

• dbSNP Id: rs777889848
• ExAC: 16:51173572 G / A
• gnomAD v2: 16-51173572-G-A
• gnomAD v4: 16-51139661-G-A
• COSMIC: COSM3510163
• MyVariant Identifiers: chr16:g.51173572G>A (hg19) ; chr16:g.51139661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139661G>A , CM000678.2:g.51139661G>A	GRCh38
NC_000016.9:g.51173572G>A , CM000678.1:g.51173572G>A	GRCh37
NC_000016.8:g.49731073G>A	NCBI36
NG_007990.1:g.16612C>T , LRG_674:g.16612C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.2561C>T	ENSP00000407914.2:p.Ser854Leu
ENST00000570206.2:c.2270C>T	ENSP00000456777.2:p.Ser757Leu
ENST00000685868.1:c.2561C>T	ENSP00000509873.1:p.Ser854Leu
ENST00000690502.1:c.2561C>T	ENSP00000510560.1:p.Ser854Leu
ENST00000251020.9:c.2561C>T MANE Select	ENSP00000251020.4:p.Ser854Leu
ENST00000251020.8:c.2561C>T	ENSP00000251020.4:p.Ser854Leu
ENST00000440970.5:c.2270C>T	ENSP00000407914.1:p.Ser757Leu
ENST00000566102.1:c.77-2109C>T	ENSP00000455582.1:n.77-2109C>T
ENST00000570206.1:c.2270C>T	ENSP00000456777.1:p.Ser757Leu
NM_001127892.1:c.2270C>T	NP_001121364.1:p.Ser757Leu
NM_002968.2:c.2561C>T , LRG_674t1:c.2561C>T	NP_002959.2:p.Ser854Leu
XM_006721241.2:c.2561C>T	XP_006721304.1:p.Ser854Leu
XM_011523254.1:c.2561C>T	XP_011521556.1:p.Ser854Leu
XM_011523255.1:c.2561C>T	XP_011521557.1:p.Ser854Leu
NM_002968.3:c.2561C>T MANE Select	NP_002959.2:p.Ser854Leu
NM_001127892.2:c.2270C>T	NP_001121364.1:p.Ser757Leu