Canonical Allele Identifier: CA399986330
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1599369
ClinVar RCV Id: RCV002115845
dbSNP Id: rs1269773544

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46032073T>C , CM000679.2:g.46032073T>C GRCh38
NC_000017.10:g.44109439T>C , CM000679.1:g.44109439T>C GRCh37
NC_000017.9:g.41465286T>C NCBI36
NG_032784.1:g.198302A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.3064A>G MANE Select ENSP00000387393.3:p.Thr1022Ala
ENST00000572904.6:c.3064A>G ENSP00000461484.1:p.Thr1022Ala
ENST00000574590.6:c.3061A>G ENSP00000461812.2:p.Thr1021Ala
ENST00000575318.6:c.2872A>G ENSP00000461299.1:p.Thr958Ala
ENST00000638275.1:c.2872A>G ENSP00000492576.1:p.Thr958Ala
ENST00000639805.1:n.481A>G
ENST00000648792.1:c.2932A>G ENSP00000497628.1:p.Thr978Ala
ENST00000262419.10:c.3064A>G ENSP00000262419.6:p.Thr1022Ala
ENST00000432791.5:c.3061A>G ENSP00000387393.2:p.Thr1021Ala
ENST00000572218.5:n.7281A>G
ENST00000572904.5:c.3064A>G ENSP00000461484.1:p.Thr1022Ala
ENST00000574590.5:c.3064A>G ENSP00000461812.1:p.Thr1022Ala
ENST00000574963.1:n.494A>G
ENST00000575318.5:c.2872A>G ENSP00000461299.1:p.Thr958Ala
ENST00000576870.5:n.1036A>G
NM_001193465.1:c.3061A>G NP_001180394.1:p.Thr1021Ala
NM_001193466.1:c.3064A>G NP_001180395.1:p.Thr1022Ala
NM_015443.3:c.3064A>G NP_056258.1:p.Thr1022Ala
XM_006721823.1:c.3064A>G XP_006721886.1:p.Thr1022Ala
XM_006721824.2:c.3064A>G XP_006721887.1:p.Thr1022Ala
XM_011524628.1:c.3061A>G XP_011522930.1:p.Thr1021Ala
XM_011524629.1:c.2962A>G XP_011522931.1:p.Thr988Ala
XM_011524630.1:c.2875A>G XP_011522932.1:p.Thr959Ala
XM_011524631.1:c.2872A>G XP_011522933.1:p.Thr958Ala
XM_011524632.1:c.1834A>G XP_011522934.1:p.Thr612Ala
XM_006721823.2:c.3064A>G XP_006721886.1:p.Thr1022Ala
XM_006721824.4:c.3064A>G XP_006721887.1:p.Thr1022Ala
XM_011524628.3:c.3061A>G XP_011522930.1:p.Thr1021Ala
XM_011524629.3:c.2962A>G XP_011522931.1:p.Thr988Ala
XM_011524630.3:c.2875A>G XP_011522932.1:p.Thr959Ala
XM_011524631.3:c.2872A>G XP_011522933.1:p.Thr958Ala
XM_011524632.3:c.1834A>G XP_011522934.1:p.Thr612Ala
XM_017024488.2:c.2872A>G XP_016879977.1:p.Thr958Ala
NM_001193466.2:c.3064A>G NP_001180395.1:p.Thr1022Ala
NM_015443.4:c.3064A>G MANE Select NP_056258.1:p.Thr1022Ala
NM_001193465.2:c.3061A>G NP_001180394.1:p.Thr1021Ala
NM_001379198.1:c.3064A>G NP_001366127.1:p.Thr1022Ala