Canonical Allele Identifier: CA8052913

Gene: SALL1

Linked Data

• dbSNP Id: rs745948182
• ExAC: 16:51172580 T / G
• gnomAD v2: 16-51172580-T-G
• gnomAD v4: 16-51138669-T-G
• MyVariant Identifiers: chr16:g.51172580T>G (hg19) ; chr16:g.51138669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51138669T>G , CM000678.2:g.51138669T>G	GRCh38
NC_000016.9:g.51172580T>G , CM000678.1:g.51172580T>G	GRCh37
NC_000016.8:g.49730081T>G	NCBI36
NG_007990.1:g.17604A>C , LRG_674:g.17604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3534+19A>C	ENSP00000407914.2:n.3534+19A>C
ENST00000570206.2:c.3243+19A>C	ENSP00000456777.2:n.3243+19A>C
ENST00000685868.1:c.3534+19A>C	ENSP00000509873.1:n.3534+19A>C
ENST00000690502.1:c.3553A>C	ENSP00000510560.1:p.Thr1185Pro
ENST00000251020.9:c.3534+19A>C MANE Select	ENSP00000251020.4:n.3534+19A>C
ENST00000251020.8:c.3534+19A>C	ENSP00000251020.4:n.3534+19A>C
ENST00000440970.5:c.3243+19A>C	ENSP00000407914.1:n.3243+19A>C
ENST00000566102.1:c.77-1117A>C	ENSP00000455582.1:n.77-1117A>C
ENST00000570206.1:c.3243+19A>C	ENSP00000456777.1:n.3243+19A>C
NM_001127892.1:c.3243+19A>C	NP_001121364.1:n.3243+19A>C
NM_002968.2:c.3534+19A>C , LRG_674t1:c.3534+19A>C	NP_002959.2:n.3534+19A>C
XM_006721241.2:c.3534+19A>C	XP_006721304.1:n.3534+19A>C
XM_011523254.1:c.3534+19A>C	XP_011521556.1:n.3534+19A>C
XM_011523255.1:c.3534+19A>C	XP_011521557.1:n.3534+19A>C
NM_002968.3:c.3534+19A>C MANE Select	NP_002959.2:n.3534+19A>C
NM_001127892.2:c.3243+19A>C	NP_001121364.1:n.3243+19A>C