Canonical Allele Identifier: CA395891514

Gene: SALL1

Linked Data

• gnomAD v4: 16-51141653-A-G
• MyVariant Identifiers: chr16:g.51175564A>G (hg19) ; chr16:g.51141653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141653A>G , CM000678.2:g.51141653A>G	GRCh38
NC_000016.9:g.51175564A>G , CM000678.1:g.51175564A>G	GRCh37
NC_000016.8:g.49733065A>G	NCBI36
NG_007990.1:g.14620T>C , LRG_674:g.14620T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.569T>C	ENSP00000407914.2:p.Val190Ala
ENST00000570206.2:c.278T>C	ENSP00000456777.2:p.Val93Ala
ENST00000685868.1:c.569T>C	ENSP00000509873.1:p.Val190Ala
ENST00000690502.1:c.569T>C	ENSP00000510560.1:p.Val190Ala
ENST00000251020.9:c.569T>C MANE Select	ENSP00000251020.4:p.Val190Ala
ENST00000251020.8:c.569T>C	ENSP00000251020.4:p.Val190Ala
ENST00000440970.5:c.278T>C	ENSP00000407914.1:p.Val93Ala
ENST00000566102.1:c.77-4101T>C	ENSP00000455582.1:n.77-4101T>C
ENST00000570206.1:c.278T>C	ENSP00000456777.1:p.Val93Ala
NM_001127892.1:c.278T>C	NP_001121364.1:p.Val93Ala
NM_002968.2:c.569T>C , LRG_674t1:c.569T>C	NP_002959.2:p.Val190Ala
XM_006721241.2:c.569T>C	XP_006721304.1:p.Val190Ala
XM_011523254.1:c.569T>C	XP_011521556.1:p.Val190Ala
XM_011523255.1:c.569T>C	XP_011521557.1:p.Val190Ala
NM_002968.3:c.569T>C MANE Select	NP_002959.2:p.Val190Ala
NM_001127892.2:c.278T>C	NP_001121364.1:p.Val93Ala