Canonical Allele Identifier: CA495478685

Gene: SALL1

Linked Data

• dbSNP Id: rs1475150821
• gnomAD v2: 16-51171182-G-A
• gnomAD v4: 16-51137271-G-A
• MyVariant Identifiers: chr16:g.51171182G>A (hg19) ; chr16:g.51137271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51137271G>A , CM000678.2:g.51137271G>A	GRCh38
NC_000016.9:g.51171182G>A , CM000678.1:g.51171182G>A	GRCh37
NC_000016.8:g.49728683G>A	NCBI36
NG_007990.1:g.19002C>T , LRG_674:g.19002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.3816C>T	ENSP00000407914.2:p.Ser1272=
ENST00000570206.2:c.3525C>T	ENSP00000456777.2:p.Ser1175=
ENST00000685868.1:c.3816C>T	ENSP00000509873.1:p.Ser1272=
ENST00000251020.9:c.3816C>T MANE Select	ENSP00000251020.4:p.Ser1272=
ENST00000251020.8:c.3816C>T	ENSP00000251020.4:p.Ser1272=
ENST00000440970.5:c.3525C>T	ENSP00000407914.1:p.Ser1175=
ENST00000566102.1:c.358C>T	ENSP00000455582.1:n.358C>T
NM_001127892.1:c.3525C>T	NP_001121364.1:p.Ser1175=
NM_002968.2:c.3816C>T , LRG_674t1:c.3816C>T	NP_002959.2:p.Ser1272=
XM_006721241.2:c.3816C>T	XP_006721304.1:p.Ser1272=
XM_011523254.1:c.3816C>T	XP_011521556.1:p.Ser1272=
XM_011523255.1:c.3816C>T	XP_011521557.1:p.Ser1272=
NM_002968.3:c.3816C>T MANE Select	NP_002959.2:p.Ser1272=
NM_001127892.2:c.3525C>T	NP_001121364.1:p.Ser1175=