Canonical Allele Identifier: CA399987602

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46033125C>T , CM000679.2:g.46033125C>T	GRCh38
NC_000017.10:g.44110491C>T , CM000679.1:g.44110491C>T	GRCh37
NC_000017.9:g.41466338C>T	NCBI36
NG_032784.1:g.197250G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015443.4:c.2792G>A MANE Select	NP_056258.1:p.Arg931Gln
ENST00000432791.7:c.2792G>A MANE Select	ENSP00000387393.3:p.Arg931Gln
NM_001193465.1:c.2789G>A	NP_001180394.1:p.Arg930Gln
NM_001193465.2:c.2789G>A	NP_001180394.1:p.Arg930Gln
NM_001193466.1:c.2792G>A	NP_001180395.1:p.Arg931Gln
NM_001193466.2:c.2792G>A	NP_001180395.1:p.Arg931Gln
NM_001379198.1:c.2792G>A	NP_001366127.1:p.Arg931Gln
NM_015443.3:c.2792G>A	NP_056258.1:p.Arg931Gln
ENST00000262419.10:c.2792G>A	ENSP00000262419.6:p.Arg931Gln
ENST00000432791.5:c.2789G>A	ENSP00000387393.2:p.Arg930Gln
ENST00000572218.5:n.7009G>A
ENST00000572904.5:c.2792G>A	ENSP00000461484.1:p.Arg931Gln
ENST00000572904.6:c.2792G>A	ENSP00000461484.1:p.Arg931Gln
ENST00000573682.1:n.178G>A
ENST00000574590.5:c.2792G>A	ENSP00000461812.1:p.Arg931Gln
ENST00000574590.6:c.2789G>A	ENSP00000461812.2:p.Arg930Gln
ENST00000575318.5:c.2600G>A	ENSP00000461299.1:p.Arg867Gln
ENST00000575318.6:c.2600G>A	ENSP00000461299.1:p.Arg867Gln
ENST00000576137.1:n.431G>A
ENST00000576137.2:n.789G>A
ENST00000576870.5:n.764G>A
ENST00000638275.1:c.2600G>A	ENSP00000492576.1:p.Arg867Gln
ENST00000638291.1:n.620G>A
ENST00000638551.1:n.740G>A
ENST00000639150.1:c.1526G>A	ENSP00000491906.1:p.Arg509Gln
ENST00000639467.1:c.449G>A	ENSP00000492741.1:p.Arg150Gln
ENST00000639531.1:c.2603G>A	ENSP00000491765.1:p.Arg868Gln
ENST00000639805.1:n.209G>A
ENST00000640092.1:n.1479G>A
ENST00000640519.1:n.1890G>A
ENST00000640751.1:n.387G>A
ENST00000648792.1:c.2792G>A	ENSP00000497628.1:p.Arg931Gln
XM_006721823.1:c.2792G>A	XP_006721886.1:p.Arg931Gln
XM_006721823.2:c.2792G>A	XP_006721886.1:p.Arg931Gln
XM_006721824.2:c.2792G>A	XP_006721887.1:p.Arg931Gln
XM_006721824.4:c.2792G>A	XP_006721887.1:p.Arg931Gln
XM_011524628.1:c.2789G>A	XP_011522930.1:p.Arg930Gln
XM_011524628.3:c.2789G>A	XP_011522930.1:p.Arg930Gln
XM_011524629.1:c.2690G>A	XP_011522931.1:p.Arg897Gln
XM_011524629.3:c.2690G>A	XP_011522931.1:p.Arg897Gln
XM_011524630.1:c.2603G>A	XP_011522932.1:p.Arg868Gln
XM_011524630.3:c.2603G>A	XP_011522932.1:p.Arg868Gln
XM_011524631.1:c.2600G>A	XP_011522933.1:p.Arg867Gln
XM_011524631.3:c.2600G>A	XP_011522933.1:p.Arg867Gln
XM_011524632.1:c.1562G>A	XP_011522934.1:p.Arg521Gln
XM_011524632.3:c.1562G>A	XP_011522934.1:p.Arg521Gln
XM_017024488.2:c.2600G>A	XP_016879977.1:p.Arg867Gln