Canonical Allele Identifier: CA495779885

Gene: SALL1

Linked Data

• gnomAD v4: 16-51139077-A-G
• MyVariant Identifiers: chr16:g.51172988A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139077A>G , CM000678.2:g.51139077A>G	GRCh38
NC_000016.9:g.51172988A>G , CM000678.1:g.51172988A>G	GRCh37
NC_000016.8:g.49730489A>G	NCBI36
NG_007990.1:g.17196T>C , LRG_674:g.17196T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.3145T>C	ENSP00000407914.2:p.Leu1049=
ENST00000570206.2:c.2854T>C	ENSP00000456777.2:p.Leu952=
ENST00000685868.1:c.3145T>C	ENSP00000509873.1:p.Leu1049=
ENST00000690502.1:c.3145T>C	ENSP00000510560.1:p.Leu1049=
ENST00000251020.9:c.3145T>C MANE Select	ENSP00000251020.4:p.Leu1049=
ENST00000251020.8:c.3145T>C	ENSP00000251020.4:p.Leu1049=
ENST00000440970.5:c.2854T>C	ENSP00000407914.1:p.Leu952=
ENST00000566102.1:c.77-1525T>C	ENSP00000455582.1:n.77-1525T>C
ENST00000570206.1:c.2854T>C	ENSP00000456777.1:p.Leu952=
NM_001127892.1:c.2854T>C	NP_001121364.1:p.Leu952=
NM_002968.2:c.3145T>C , LRG_674t1:c.3145T>C	NP_002959.2:p.Leu1049=
XM_006721241.2:c.3145T>C	XP_006721304.1:p.Leu1049=
XM_011523254.1:c.3145T>C	XP_011521556.1:p.Leu1049=
XM_011523255.1:c.3145T>C	XP_011521557.1:p.Leu1049=
NM_002968.3:c.3145T>C MANE Select	NP_002959.2:p.Leu1049=
NM_001127892.2:c.2854T>C	NP_001121364.1:p.Leu952=