Canonical Allele Identifier: CA395891444

Gene: SALL1

Linked Data

• gnomAD v4: 16-51141633-T-G
• MyVariant Identifiers: chr16:g.51175544T>G (hg19) ; chr16:g.51141633T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141633T>G , CM000678.2:g.51141633T>G	GRCh38
NC_000016.9:g.51175544T>G , CM000678.1:g.51175544T>G	GRCh37
NC_000016.8:g.49733045T>G	NCBI36
NG_007990.1:g.14640A>C , LRG_674:g.14640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.589A>C	ENSP00000407914.2:p.Ile197Leu
ENST00000570206.2:c.298A>C	ENSP00000456777.2:p.Ile100Leu
ENST00000685868.1:c.589A>C	ENSP00000509873.1:p.Ile197Leu
ENST00000690502.1:c.589A>C	ENSP00000510560.1:p.Ile197Leu
ENST00000251020.9:c.589A>C MANE Select	ENSP00000251020.4:p.Ile197Leu
ENST00000251020.8:c.589A>C	ENSP00000251020.4:p.Ile197Leu
ENST00000440970.5:c.298A>C	ENSP00000407914.1:p.Ile100Leu
ENST00000566102.1:c.77-4081A>C	ENSP00000455582.1:n.77-4081A>C
ENST00000570206.1:c.298A>C	ENSP00000456777.1:p.Ile100Leu
NM_001127892.1:c.298A>C	NP_001121364.1:p.Ile100Leu
NM_002968.2:c.589A>C , LRG_674t1:c.589A>C	NP_002959.2:p.Ile197Leu
XM_006721241.2:c.589A>C	XP_006721304.1:p.Ile197Leu
XM_011523254.1:c.589A>C	XP_011521556.1:p.Ile197Leu
XM_011523255.1:c.589A>C	XP_011521557.1:p.Ile197Leu
NM_002968.3:c.589A>C MANE Select	NP_002959.2:p.Ile197Leu
NM_001127892.2:c.298A>C	NP_001121364.1:p.Ile100Leu