Canonical Allele Identifier: CA8618325

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 388823
• ClinVar RCV Id: RCV000431264
• dbSNP Id: rs542543248
• ExAC: 17:44108855 G / A
• gnomAD v2: 17-44108855-G-A
• gnomAD v3: 17-46031489-G-A
• gnomAD v4: 17-46031489-G-A
• MyVariant Identifiers: chr17:g.44108855G>A (hg19) ; chr17:g.46031489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031489G>A , CM000679.2:g.46031489G>A	GRCh38
NC_000017.10:g.44108855G>A , CM000679.1:g.44108855G>A	GRCh37
NC_000017.9:g.41464702G>A	NCBI36
NG_032784.1:g.198886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.3305C>T MANE Select	ENSP00000387393.3:p.Pro1102Leu
ENST00000572904.6:c.3305C>T	ENSP00000461484.1:p.Pro1102Leu
ENST00000574590.6:c.3302C>T	ENSP00000461812.2:p.Pro1101Leu
ENST00000575318.6:c.3113C>T	ENSP00000461299.1:p.Pro1038Leu
ENST00000638275.1:c.3113C>T	ENSP00000492576.1:p.Pro1038Leu
ENST00000648792.1:c.3173C>T	ENSP00000497628.1:p.Pro1058Leu
ENST00000262419.10:c.3305C>T	ENSP00000262419.6:p.Pro1102Leu
ENST00000432791.5:c.3302C>T	ENSP00000387393.2:p.Pro1101Leu
ENST00000572218.5:n.7522C>T
ENST00000572904.5:c.3305C>T	ENSP00000461484.1:p.Pro1102Leu
ENST00000574590.5:c.3305C>T	ENSP00000461812.1:p.Pro1102Leu
ENST00000574963.1:n.1078C>T
ENST00000575318.5:c.3113C>T	ENSP00000461299.1:p.Pro1038Leu
ENST00000576870.5:n.1277C>T
NM_001193465.1:c.3302C>T	NP_001180394.1:p.Pro1101Leu
NM_001193466.1:c.3305C>T	NP_001180395.1:p.Pro1102Leu
NM_015443.3:c.3305C>T	NP_056258.1:p.Pro1102Leu
XM_006721823.1:c.3305C>T	XP_006721886.1:p.Pro1102Leu
XM_006721824.2:c.3305C>T	XP_006721887.1:p.Pro1102Leu
XM_011524628.1:c.3302C>T	XP_011522930.1:p.Pro1101Leu
XM_011524629.1:c.3203C>T	XP_011522931.1:p.Pro1068Leu
XM_011524630.1:c.3116C>T	XP_011522932.1:p.Pro1039Leu
XM_011524631.1:c.3113C>T	XP_011522933.1:p.Pro1038Leu
XM_011524632.1:c.2075C>T	XP_011522934.1:p.Pro692Leu
XM_006721823.2:c.3305C>T	XP_006721886.1:p.Pro1102Leu
XM_006721824.4:c.3305C>T	XP_006721887.1:p.Pro1102Leu
XM_011524628.3:c.3302C>T	XP_011522930.1:p.Pro1101Leu
XM_011524629.3:c.3203C>T	XP_011522931.1:p.Pro1068Leu
XM_011524630.3:c.3116C>T	XP_011522932.1:p.Pro1039Leu
XM_011524631.3:c.3113C>T	XP_011522933.1:p.Pro1038Leu
XM_011524632.3:c.2075C>T	XP_011522934.1:p.Pro692Leu
XM_017024488.2:c.3113C>T	XP_016879977.1:p.Pro1038Leu
NM_001193466.2:c.3305C>T	NP_001180395.1:p.Pro1102Leu
NM_015443.4:c.3305C>T MANE Select	NP_056258.1:p.Pro1102Leu
NM_001193465.2:c.3302C>T	NP_001180394.1:p.Pro1101Leu
NM_001379198.1:c.3305C>T	NP_001366127.1:p.Pro1102Leu