Canonical Allele Identifier: CA399985501
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1525508
ClinVar RCV Id: RCV002036739
dbSNP Id: rs1470593799

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46031502T>C , CM000679.2:g.46031502T>C GRCh38
NC_000017.10:g.44108868T>C , CM000679.1:g.44108868T>C GRCh37
NC_000017.9:g.41464715T>C NCBI36
NG_032784.1:g.198873A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.3292A>G MANE Select ENSP00000387393.3:p.Thr1098Ala
ENST00000572904.6:c.3292A>G ENSP00000461484.1:p.Thr1098Ala
ENST00000574590.6:c.3289A>G ENSP00000461812.2:p.Thr1097Ala
ENST00000575318.6:c.3100A>G ENSP00000461299.1:p.Thr1034Ala
ENST00000638275.1:c.3100A>G ENSP00000492576.1:p.Thr1034Ala
ENST00000648792.1:c.3160A>G ENSP00000497628.1:p.Thr1054Ala
ENST00000262419.10:c.3292A>G ENSP00000262419.6:p.Thr1098Ala
ENST00000432791.5:c.3289A>G ENSP00000387393.2:p.Thr1097Ala
ENST00000572218.5:n.7509A>G
ENST00000572904.5:c.3292A>G ENSP00000461484.1:p.Thr1098Ala
ENST00000574590.5:c.3292A>G ENSP00000461812.1:p.Thr1098Ala
ENST00000574963.1:n.1065A>G
ENST00000575318.5:c.3100A>G ENSP00000461299.1:p.Thr1034Ala
ENST00000576870.5:n.1264A>G
NM_001193465.1:c.3289A>G NP_001180394.1:p.Thr1097Ala
NM_001193466.1:c.3292A>G NP_001180395.1:p.Thr1098Ala
NM_015443.3:c.3292A>G NP_056258.1:p.Thr1098Ala
XM_006721823.1:c.3292A>G XP_006721886.1:p.Thr1098Ala
XM_006721824.2:c.3292A>G XP_006721887.1:p.Thr1098Ala
XM_011524628.1:c.3289A>G XP_011522930.1:p.Thr1097Ala
XM_011524629.1:c.3190A>G XP_011522931.1:p.Thr1064Ala
XM_011524630.1:c.3103A>G XP_011522932.1:p.Thr1035Ala
XM_011524631.1:c.3100A>G XP_011522933.1:p.Thr1034Ala
XM_011524632.1:c.2062A>G XP_011522934.1:p.Thr688Ala
XM_006721823.2:c.3292A>G XP_006721886.1:p.Thr1098Ala
XM_006721824.4:c.3292A>G XP_006721887.1:p.Thr1098Ala
XM_011524628.3:c.3289A>G XP_011522930.1:p.Thr1097Ala
XM_011524629.3:c.3190A>G XP_011522931.1:p.Thr1064Ala
XM_011524630.3:c.3103A>G XP_011522932.1:p.Thr1035Ala
XM_011524631.3:c.3100A>G XP_011522933.1:p.Thr1034Ala
XM_011524632.3:c.2062A>G XP_011522934.1:p.Thr688Ala
XM_017024488.2:c.3100A>G XP_016879977.1:p.Thr1034Ala
NM_001193466.2:c.3292A>G NP_001180395.1:p.Thr1098Ala
NM_015443.4:c.3292A>G MANE Select NP_056258.1:p.Thr1098Ala
NM_001193465.2:c.3289A>G NP_001180394.1:p.Thr1097Ala
NM_001379198.1:c.3292A>G NP_001366127.1:p.Thr1098Ala