Canonical Allele Identifier: CA495781289
Gene: SALL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.51175172G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141261G>A , CM000678.2:g.51141261G>A GRCh38
NC_000016.9:g.51175172G>A , CM000678.1:g.51175172G>A GRCh37
NC_000016.8:g.49732673G>A NCBI36
NG_007990.1:g.15012C>T , LRG_674:g.15012C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.961C>T ENSP00000407914.2:p.Leu321=
ENST00000570206.2:c.670C>T ENSP00000456777.2:p.Leu224=
ENST00000685868.1:c.961C>T ENSP00000509873.1:p.Leu321=
ENST00000690502.1:c.961C>T ENSP00000510560.1:p.Leu321=
ENST00000251020.9:c.961C>T MANE Select ENSP00000251020.4:p.Leu321=
ENST00000251020.8:c.961C>T ENSP00000251020.4:p.Leu321=
ENST00000440970.5:c.670C>T ENSP00000407914.1:p.Leu224=
ENST00000566102.1:c.77-3709C>T ENSP00000455582.1:n.77-3709C>T
ENST00000570206.1:c.670C>T ENSP00000456777.1:p.Leu224=
NM_001127892.1:c.670C>T NP_001121364.1:p.Leu224=
NM_002968.2:c.961C>T , LRG_674t1:c.961C>T NP_002959.2:p.Leu321=
XM_006721241.2:c.961C>T XP_006721304.1:p.Leu321=
XM_011523254.1:c.961C>T XP_011521556.1:p.Leu321=
XM_011523255.1:c.961C>T XP_011521557.1:p.Leu321=
NM_002968.3:c.961C>T MANE Select NP_002959.2:p.Leu321=
NM_001127892.2:c.670C>T NP_001121364.1:p.Leu224=