Canonical Allele Identifier: CA399985627

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 567755
• ClinVar RCV Id: RCV002544788
• dbSNP Id: rs1568364868
• MyVariant Identifiers: chr17:g.44108894T>C (hg19) ; chr17:g.46031528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031528T>C , CM000679.2:g.46031528T>C	GRCh38
NC_000017.10:g.44108894T>C , CM000679.1:g.44108894T>C	GRCh37
NC_000017.9:g.41464741T>C	NCBI36
NG_032784.1:g.198847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3266A>G MANE Select	ENSP00000387393.3:p.Lys1089Arg
ENST00000572904.6:c.3266A>G	ENSP00000461484.1:p.Lys1089Arg
ENST00000574590.6:c.3263A>G	ENSP00000461812.2:p.Lys1088Arg
ENST00000575318.6:c.3074A>G	ENSP00000461299.1:p.Lys1025Arg
ENST00000638275.1:c.3074A>G	ENSP00000492576.1:p.Lys1025Arg
ENST00000648792.1:c.3134A>G	ENSP00000497628.1:p.Lys1045Arg
ENST00000262419.10:c.3266A>G	ENSP00000262419.6:p.Lys1089Arg
ENST00000432791.5:c.3263A>G	ENSP00000387393.2:p.Lys1088Arg
ENST00000572218.5:n.7483A>G
ENST00000572904.5:c.3266A>G	ENSP00000461484.1:p.Lys1089Arg
ENST00000574590.5:c.3266A>G	ENSP00000461812.1:p.Lys1089Arg
ENST00000574963.1:n.1039A>G
ENST00000575318.5:c.3074A>G	ENSP00000461299.1:p.Lys1025Arg
ENST00000576870.5:n.1238A>G
NM_001193465.1:c.3263A>G	NP_001180394.1:p.Lys1088Arg
NM_001193466.1:c.3266A>G	NP_001180395.1:p.Lys1089Arg
NM_015443.3:c.3266A>G	NP_056258.1:p.Lys1089Arg
XM_006721823.1:c.3266A>G	XP_006721886.1:p.Lys1089Arg
XM_006721824.2:c.3266A>G	XP_006721887.1:p.Lys1089Arg
XM_011524628.1:c.3263A>G	XP_011522930.1:p.Lys1088Arg
XM_011524629.1:c.3164A>G	XP_011522931.1:p.Lys1055Arg
XM_011524630.1:c.3077A>G	XP_011522932.1:p.Lys1026Arg
XM_011524631.1:c.3074A>G	XP_011522933.1:p.Lys1025Arg
XM_011524632.1:c.2036A>G	XP_011522934.1:p.Lys679Arg
XM_006721823.2:c.3266A>G	XP_006721886.1:p.Lys1089Arg
XM_006721824.4:c.3266A>G	XP_006721887.1:p.Lys1089Arg
XM_011524628.3:c.3263A>G	XP_011522930.1:p.Lys1088Arg
XM_011524629.3:c.3164A>G	XP_011522931.1:p.Lys1055Arg
XM_011524630.3:c.3077A>G	XP_011522932.1:p.Lys1026Arg
XM_011524631.3:c.3074A>G	XP_011522933.1:p.Lys1025Arg
XM_011524632.3:c.2036A>G	XP_011522934.1:p.Lys679Arg
XM_017024488.2:c.3074A>G	XP_016879977.1:p.Lys1025Arg
NM_001193466.2:c.3266A>G	NP_001180395.1:p.Lys1089Arg
NM_015443.4:c.3266A>G MANE Select	NP_056258.1:p.Lys1089Arg
NM_001193465.2:c.3263A>G	NP_001180394.1:p.Lys1088Arg
NM_001379198.1:c.3266A>G	NP_001366127.1:p.Lys1089Arg