Canonical Allele Identifier: CA8053370

Gene: SALL1

Linked Data

• dbSNP Id: rs753328088
• ExAC: 16:51175190 G / T
• gnomAD v2: 16-51175190-G-T
• gnomAD v4: 16-51141279-G-T
• MyVariant Identifiers: chr16:g.51175190G>T (hg19) ; chr16:g.51141279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141279G>T , CM000678.2:g.51141279G>T	GRCh38
NC_000016.9:g.51175190G>T , CM000678.1:g.51175190G>T	GRCh37
NC_000016.8:g.49732691G>T	NCBI36
NG_007990.1:g.14994C>A , LRG_674:g.14994C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.943C>A	ENSP00000407914.2:p.Gln315Lys
ENST00000570206.2:c.652C>A	ENSP00000456777.2:p.Gln218Lys
ENST00000685868.1:c.943C>A	ENSP00000509873.1:p.Gln315Lys
ENST00000690502.1:c.943C>A	ENSP00000510560.1:p.Gln315Lys
ENST00000251020.9:c.943C>A MANE Select	ENSP00000251020.4:p.Gln315Lys
ENST00000251020.8:c.943C>A	ENSP00000251020.4:p.Gln315Lys
ENST00000440970.5:c.652C>A	ENSP00000407914.1:p.Gln218Lys
ENST00000566102.1:c.77-3727C>A	ENSP00000455582.1:n.77-3727C>A
ENST00000570206.1:c.652C>A	ENSP00000456777.1:p.Gln218Lys
NM_001127892.1:c.652C>A	NP_001121364.1:p.Gln218Lys
NM_002968.2:c.943C>A , LRG_674t1:c.943C>A	NP_002959.2:p.Gln315Lys
XM_006721241.2:c.943C>A	XP_006721304.1:p.Gln315Lys
XM_011523254.1:c.943C>A	XP_011521556.1:p.Gln315Lys
XM_011523255.1:c.943C>A	XP_011521557.1:p.Gln315Lys
NM_002968.3:c.943C>A MANE Select	NP_002959.2:p.Gln315Lys
NM_001127892.2:c.652C>A	NP_001121364.1:p.Gln218Lys