Canonical Allele Identifier: CA395890260

Gene: SALL1

Linked Data

• gnomAD v4: 16-51141267-T-C
• MyVariant Identifiers: chr16:g.51175178T>C (hg19) ; chr16:g.51141267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141267T>C , CM000678.2:g.51141267T>C	GRCh38
NC_000016.9:g.51175178T>C , CM000678.1:g.51175178T>C	GRCh37
NC_000016.8:g.49732679T>C	NCBI36
NG_007990.1:g.15006A>G , LRG_674:g.15006A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.955A>G	ENSP00000407914.2:p.Ile319Val
ENST00000570206.2:c.664A>G	ENSP00000456777.2:p.Ile222Val
ENST00000685868.1:c.955A>G	ENSP00000509873.1:p.Ile319Val
ENST00000690502.1:c.955A>G	ENSP00000510560.1:p.Ile319Val
ENST00000251020.9:c.955A>G MANE Select	ENSP00000251020.4:p.Ile319Val
ENST00000251020.8:c.955A>G	ENSP00000251020.4:p.Ile319Val
ENST00000440970.5:c.664A>G	ENSP00000407914.1:p.Ile222Val
ENST00000566102.1:c.77-3715A>G	ENSP00000455582.1:n.77-3715A>G
ENST00000570206.1:c.664A>G	ENSP00000456777.1:p.Ile222Val
NM_001127892.1:c.664A>G	NP_001121364.1:p.Ile222Val
NM_002968.2:c.955A>G , LRG_674t1:c.955A>G	NP_002959.2:p.Ile319Val
XM_006721241.2:c.955A>G	XP_006721304.1:p.Ile319Val
XM_011523254.1:c.955A>G	XP_011521556.1:p.Ile319Val
XM_011523255.1:c.955A>G	XP_011521557.1:p.Ile319Val
NM_002968.3:c.955A>G MANE Select	NP_002959.2:p.Ile319Val
NM_001127892.2:c.664A>G	NP_001121364.1:p.Ile222Val