Canonical Allele Identifier: CA8618558
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514852
dbSNP Id: rs754877424

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46038615A>C , CM000679.2:g.46038615A>C GRCh38
NC_000017.10:g.44115981A>C , CM000679.1:g.44115981A>C GRCh37
NC_000017.9:g.41471828A>C NCBI36
NG_032784.1:g.191760T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.2464T>G MANE Select ENSP00000387393.3:p.Leu822Val
ENST00000572904.6:c.2464T>G ENSP00000461484.1:p.Leu822Val
ENST00000573286.2:n.4147T>G
ENST00000574590.6:c.2464T>G ENSP00000461812.2:p.Leu822Val
ENST00000575318.6:c.2275T>G ENSP00000461299.1:p.Leu759Val
ENST00000576137.2:n.461T>G
ENST00000638275.1:c.2275T>G ENSP00000492576.1:p.Leu759Val
ENST00000639150.1:c.1198T>G ENSP00000491906.1:p.Leu400Val
ENST00000639467.1:n.127T>G ENSP00000492741.1:p.Leu43Val
ENST00000639531.1:c.2275T>G ENSP00000491765.1:p.Leu759Val
ENST00000640636.1:n.417T>G
ENST00000648792.1:c.2464T>G ENSP00000497628.1:p.Leu822Val
ENST00000262419.10:c.2464T>G ENSP00000262419.6:p.Leu822Val
ENST00000432791.5:c.2464T>G ENSP00000387393.2:p.Leu822Val
ENST00000572218.5:n.6681T>G
ENST00000572904.5:c.2464T>G ENSP00000461484.1:p.Leu822Val
ENST00000573286.1:n.320T>G
ENST00000574590.5:c.2464T>G ENSP00000461812.1:p.Leu822Val
ENST00000575318.5:c.2275T>G ENSP00000461299.1:p.Leu759Val
ENST00000576137.1:n.103T>G
ENST00000576870.5:n.436T>G
NM_001193465.1:c.2464T>G NP_001180394.1:p.Leu822Val
NM_001193466.1:c.2464T>G NP_001180395.1:p.Leu822Val
NM_015443.3:c.2464T>G NP_056258.1:p.Leu822Val
XM_006721823.1:c.2464T>G XP_006721886.1:p.Leu822Val
XM_006721824.2:c.2464T>G XP_006721887.1:p.Leu822Val
XM_011524628.1:c.2464T>G XP_011522930.1:p.Leu822Val
XM_011524629.1:c.2362T>G XP_011522931.1:p.Leu788Val
XM_011524630.1:c.2275T>G XP_011522932.1:p.Leu759Val
XM_011524631.1:c.2275T>G XP_011522933.1:p.Leu759Val
XM_011524632.1:c.1234T>G XP_011522934.1:p.Leu412Val
XM_006721823.2:c.2464T>G XP_006721886.1:p.Leu822Val
XM_006721824.4:c.2464T>G XP_006721887.1:p.Leu822Val
XM_011524628.3:c.2464T>G XP_011522930.1:p.Leu822Val
XM_011524629.3:c.2362T>G XP_011522931.1:p.Leu788Val
XM_011524630.3:c.2275T>G XP_011522932.1:p.Leu759Val
XM_011524631.3:c.2275T>G XP_011522933.1:p.Leu759Val
XM_011524632.3:c.1234T>G XP_011522934.1:p.Leu412Val
XM_017024488.2:c.2275T>G XP_016879977.1:p.Leu759Val
XM_017024489.1:c.2362T>G XP_016879978.1:p.Leu788Val
NM_001193466.2:c.2464T>G NP_001180395.1:p.Leu822Val
NM_015443.4:c.2464T>G MANE Select NP_056258.1:p.Leu822Val
NM_001193465.2:c.2464T>G NP_001180394.1:p.Leu822Val
NM_001379198.1:c.2464T>G NP_001366127.1:p.Leu822Val