Canonical Allele Identifier: CA8618322
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377995
dbSNP Id: rs143746890
COSMIC: COSM980232

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46031488C>T , CM000679.2:g.46031488C>T GRCh38
NC_000017.10:g.44108854C>T , CM000679.1:g.44108854C>T GRCh37
NC_000017.9:g.41464701C>T NCBI36
NG_032784.1:g.198887G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.3306G>A MANE Select ENSP00000387393.3:p.Pro1102=
ENST00000572904.6:c.3306G>A ENSP00000461484.1:p.Pro1102=
ENST00000574590.6:c.3303G>A ENSP00000461812.2:p.Pro1101=
ENST00000575318.6:c.3114G>A ENSP00000461299.1:p.Pro1038=
ENST00000638275.1:c.3114G>A ENSP00000492576.1:p.Pro1038=
ENST00000648792.1:c.3174G>A ENSP00000497628.1:p.Pro1058=
ENST00000262419.10:c.3306G>A ENSP00000262419.6:p.Pro1102=
ENST00000432791.5:c.3303G>A ENSP00000387393.2:p.Pro1101=
ENST00000572218.5:n.7523G>A
ENST00000572904.5:c.3306G>A ENSP00000461484.1:p.Pro1102=
ENST00000574590.5:c.3306G>A ENSP00000461812.1:p.Pro1102=
ENST00000574963.1:n.1079G>A
ENST00000575318.5:c.3114G>A ENSP00000461299.1:p.Pro1038=
ENST00000576870.5:n.1278G>A
NM_001193465.1:c.3303G>A NP_001180394.1:p.Pro1101=
NM_001193466.1:c.3306G>A NP_001180395.1:p.Pro1102=
NM_015443.3:c.3306G>A NP_056258.1:p.Pro1102=
XM_006721823.1:c.3306G>A XP_006721886.1:p.Pro1102=
XM_006721824.2:c.3306G>A XP_006721887.1:p.Pro1102=
XM_011524628.1:c.3303G>A XP_011522930.1:p.Pro1101=
XM_011524629.1:c.3204G>A XP_011522931.1:p.Pro1068=
XM_011524630.1:c.3117G>A XP_011522932.1:p.Pro1039=
XM_011524631.1:c.3114G>A XP_011522933.1:p.Pro1038=
XM_011524632.1:c.2076G>A XP_011522934.1:p.Pro692=
XM_006721823.2:c.3306G>A XP_006721886.1:p.Pro1102=
XM_006721824.4:c.3306G>A XP_006721887.1:p.Pro1102=
XM_011524628.3:c.3303G>A XP_011522930.1:p.Pro1101=
XM_011524629.3:c.3204G>A XP_011522931.1:p.Pro1068=
XM_011524630.3:c.3117G>A XP_011522932.1:p.Pro1039=
XM_011524631.3:c.3114G>A XP_011522933.1:p.Pro1038=
XM_011524632.3:c.2076G>A XP_011522934.1:p.Pro692=
XM_017024488.2:c.3114G>A XP_016879977.1:p.Pro1038=
NM_001193466.2:c.3306G>A NP_001180395.1:p.Pro1102=
NM_015443.4:c.3306G>A MANE Select NP_056258.1:p.Pro1102=
NM_001193465.2:c.3303G>A NP_001180394.1:p.Pro1101=
NM_001379198.1:c.3306G>A NP_001366127.1:p.Pro1102=