Canonical Allele Identifier: CA8618427

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032276C>T , CM000679.2:g.46032276C>T	GRCh38
NC_000017.10:g.44109642C>T , CM000679.1:g.44109642C>T	GRCh37
NC_000017.9:g.41465489C>T	NCBI36
NG_032784.1:g.198099G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015443.4:c.2861G>A MANE Select	NP_056258.1:p.Arg954Gln
ENST00000432791.7:c.2861G>A MANE Select	ENSP00000387393.3:p.Arg954Gln
NM_001193465.1:c.2858G>A	NP_001180394.1:p.Arg953Gln
NM_001193465.2:c.2858G>A	NP_001180394.1:p.Arg953Gln
NM_001193466.1:c.2861G>A	NP_001180395.1:p.Arg954Gln
NM_001193466.2:c.2861G>A	NP_001180395.1:p.Arg954Gln
NM_001379198.1:c.2861G>A	NP_001366127.1:p.Arg954Gln
NM_015443.3:c.2861G>A	NP_056258.1:p.Arg954Gln
ENST00000262419.10:c.2861G>A	ENSP00000262419.6:p.Arg954Gln
ENST00000432791.5:c.2858G>A	ENSP00000387393.2:p.Arg953Gln
ENST00000572218.5:n.7078G>A
ENST00000572904.5:c.2861G>A	ENSP00000461484.1:p.Arg954Gln
ENST00000572904.6:c.2861G>A	ENSP00000461484.1:p.Arg954Gln
ENST00000573682.1:n.247G>A
ENST00000574590.5:c.2861G>A	ENSP00000461812.1:p.Arg954Gln
ENST00000574590.6:c.2858G>A	ENSP00000461812.2:p.Arg953Gln
ENST00000574963.1:n.291G>A
ENST00000575318.5:c.2669G>A	ENSP00000461299.1:p.Arg890Gln
ENST00000575318.6:c.2669G>A	ENSP00000461299.1:p.Arg890Gln
ENST00000576870.5:n.833G>A
ENST00000638275.1:c.2669G>A	ENSP00000492576.1:p.Arg890Gln
ENST00000638291.1:n.689G>A
ENST00000638551.1:n.809G>A
ENST00000639467.1:c.518G>A	ENSP00000492741.1:p.Arg173Gln
ENST00000639531.1:c.2672G>A	ENSP00000491765.1:p.Arg891Gln
ENST00000639805.1:n.278G>A
ENST00000640751.1:n.456G>A
ENST00000648792.1:c.2838-109G>A	ENSP00000497628.1:n.2838-109G>A
XM_006721823.1:c.2861G>A	XP_006721886.1:p.Arg954Gln
XM_006721823.2:c.2861G>A	XP_006721886.1:p.Arg954Gln
XM_006721824.2:c.2861G>A	XP_006721887.1:p.Arg954Gln
XM_006721824.4:c.2861G>A	XP_006721887.1:p.Arg954Gln
XM_011524628.1:c.2858G>A	XP_011522930.1:p.Arg953Gln
XM_011524628.3:c.2858G>A	XP_011522930.1:p.Arg953Gln
XM_011524629.1:c.2759G>A	XP_011522931.1:p.Arg920Gln
XM_011524629.3:c.2759G>A	XP_011522931.1:p.Arg920Gln
XM_011524630.1:c.2672G>A	XP_011522932.1:p.Arg891Gln
XM_011524630.3:c.2672G>A	XP_011522932.1:p.Arg891Gln
XM_011524631.1:c.2669G>A	XP_011522933.1:p.Arg890Gln
XM_011524631.3:c.2669G>A	XP_011522933.1:p.Arg890Gln
XM_011524632.1:c.1631G>A	XP_011522934.1:p.Arg544Gln
XM_011524632.3:c.1631G>A	XP_011522934.1:p.Arg544Gln
XM_017024488.2:c.2669G>A	XP_016879977.1:p.Arg890Gln