Canonical Allele Identifier: CA2222020781
Community Standard Title: NM_002968.3(SALL1):c.1393C= (p.Gln465=)
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51140829G= , CM000678.2:g.51140829G= GRCh38
NC_000016.9:g.51174740G= , CM000678.1:g.51174740G= GRCh37
NC_000016.8:g.49732241G= NCBI36
NG_007990.1:g.15444C= , LRG_674:g.15444C=

Transcript Alleles

HGVS Amino-acid Change
NM_002968.3:c.1393C= MANE Select NP_002959.2:p.Gln465=
ENST00000251020.9:c.1393C= MANE Select ENSP00000251020.4:p.Gln465=
NM_001127892.1:c.1102C= NP_001121364.1:p.Gln368=
NM_001127892.2:c.1102C= NP_001121364.1:p.Gln368=
NM_002968.2:c.1393C= , LRG_674t1:c.1393C= NP_002959.2:p.Gln465=
ENST00000251020.8:c.1393C= ENSP00000251020.4:p.Gln465=
ENST00000440970.5:c.1102C= ENSP00000407914.1:p.Gln368=
ENST00000440970.6:c.1393C= ENSP00000407914.2:p.Gln465=
ENST00000566102.1:c.77-3277C= ENSP00000455582.1:n.77-3277C=
ENST00000570206.1:c.1102C= ENSP00000456777.1:p.Gln368=
ENST00000570206.2:c.1102C= ENSP00000456777.2:p.Gln368=
ENST00000685868.1:c.1393C= ENSP00000509873.1:p.Gln465=
ENST00000690502.1:c.1393C= ENSP00000510560.1:p.Gln465=
XM_006721241.2:c.1393C= XP_006721304.1:p.Gln465=
XM_011523254.1:c.1393C= XP_011521556.1:p.Gln465=
XM_011523255.1:c.1393C= XP_011521557.1:p.Gln465=