Canonical Allele Identifier: CA8053504

Gene: SALL1

Linked Data

• ClinVar Variation Id: 258870
• ClinVar RCV Id: RCV000250871 ; RCV000439131 ; RCV001089030
• dbSNP Id: rs138635817
• ExAC: 16:51175754 C / G
• gnomAD v2: 16-51175754-C-G
• gnomAD v3: 16-51141843-C-G
• gnomAD v4: 16-51141843-C-G
• MyVariant Identifiers: chr16:g.51175754C>G (hg19) ; chr16:g.51141843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141843C>G , CM000678.2:g.51141843C>G	GRCh38
NC_000016.9:g.51175754C>G , CM000678.1:g.51175754C>G	GRCh37
NC_000016.8:g.49733255C>G	NCBI36
NG_007990.1:g.14430G>C , LRG_674:g.14430G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.379G>C	ENSP00000407914.2:p.Val127Leu
ENST00000570206.2:c.88G>C	ENSP00000456777.2:p.Val30Leu
ENST00000685868.1:c.379G>C	ENSP00000509873.1:p.Val127Leu
ENST00000690502.1:c.379G>C	ENSP00000510560.1:p.Val127Leu
ENST00000251020.9:c.379G>C MANE Select	ENSP00000251020.4:p.Val127Leu
ENST00000251020.8:c.379G>C	ENSP00000251020.4:p.Val127Leu
ENST00000440970.5:c.88G>C	ENSP00000407914.1:p.Val30Leu
ENST00000566102.1:c.77-4291G>C	ENSP00000455582.1:n.77-4291G>C
ENST00000570206.1:c.88G>C	ENSP00000456777.1:p.Val30Leu
NM_001127892.1:c.88G>C	NP_001121364.1:p.Val30Leu
NM_002968.2:c.379G>C , LRG_674t1:c.379G>C	NP_002959.2:p.Val127Leu
XM_006721241.2:c.379G>C	XP_006721304.1:p.Val127Leu
XM_011523254.1:c.379G>C	XP_011521556.1:p.Val127Leu
XM_011523255.1:c.379G>C	XP_011521557.1:p.Val127Leu
NM_002968.3:c.379G>C MANE Select	NP_002959.2:p.Val127Leu
NM_001127892.2:c.88G>C	NP_001121364.1:p.Val30Leu