Canonical Allele Identifier: CA8052831

Gene: SALL1

Linked Data

• ClinVar Variation Id: 379407
• ClinVar RCV Id: RCV000436838 ; RCV002524840 ; RCV002480291
• dbSNP Id: rs145423593
• ExAC: 16:51171227 G / A
• gnomAD v2: 16-51171227-G-A
• gnomAD v3: 16-51137316-G-A
• gnomAD v4: 16-51137316-G-A
• COSMIC: COSM558057
• MyVariant Identifiers: chr16:g.51171227G>A (hg19) ; chr16:g.51137316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51137316G>A , CM000678.2:g.51137316G>A	GRCh38
NC_000016.9:g.51171227G>A , CM000678.1:g.51171227G>A	GRCh37
NC_000016.8:g.49728728G>A	NCBI36
NG_007990.1:g.18957C>T , LRG_674:g.18957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3771C>T	ENSP00000407914.2:p.Asn1257=
ENST00000570206.2:c.3480C>T	ENSP00000456777.2:p.Asn1160=
ENST00000685868.1:c.3771C>T	ENSP00000509873.1:p.Asn1257=
ENST00000251020.9:c.3771C>T MANE Select	ENSP00000251020.4:p.Asn1257=
ENST00000251020.8:c.3771C>T	ENSP00000251020.4:p.Asn1257=
ENST00000440970.5:c.3480C>T	ENSP00000407914.1:p.Asn1160=
ENST00000566102.1:c.313C>T	ENSP00000455582.1:n.313C>T
NM_001127892.1:c.3480C>T	NP_001121364.1:p.Asn1160=
NM_002968.2:c.3771C>T , LRG_674t1:c.3771C>T	NP_002959.2:p.Asn1257=
XM_006721241.2:c.3771C>T	XP_006721304.1:p.Asn1257=
XM_011523254.1:c.3771C>T	XP_011521556.1:p.Asn1257=
XM_011523255.1:c.3771C>T	XP_011521557.1:p.Asn1257=
NM_002968.3:c.3771C>T MANE Select	NP_002959.2:p.Asn1257=
NM_001127892.2:c.3480C>T	NP_001121364.1:p.Asn1160=