Canonical Allele Identifier: CA315128

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46033126G>A , CM000679.2:g.46033126G>A	GRCh38
NC_000017.10:g.44110492G>A , CM000679.1:g.44110492G>A	GRCh37
NC_000017.9:g.41466339G>A	NCBI36
NG_032784.1:g.197249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015443.4:c.2791C>T MANE Select	NP_056258.1:p.Arg931Trp
ENST00000432791.7:c.2791C>T MANE Select	ENSP00000387393.3:p.Arg931Trp
NM_001193465.1:c.2788C>T	NP_001180394.1:p.Arg930Trp
NM_001193465.2:c.2788C>T	NP_001180394.1:p.Arg930Trp
NM_001193466.1:c.2791C>T	NP_001180395.1:p.Arg931Trp
NM_001193466.2:c.2791C>T	NP_001180395.1:p.Arg931Trp
NM_001379198.1:c.2791C>T	NP_001366127.1:p.Arg931Trp
NM_015443.3:c.2791C>T	NP_056258.1:p.Arg931Trp
ENST00000262419.10:c.2791C>T	ENSP00000262419.6:p.Arg931Trp
ENST00000432791.5:c.2788C>T	ENSP00000387393.2:p.Arg930Trp
ENST00000572218.5:n.7008C>T
ENST00000572904.5:c.2791C>T	ENSP00000461484.1:p.Arg931Trp
ENST00000572904.6:c.2791C>T	ENSP00000461484.1:p.Arg931Trp
ENST00000573682.1:n.177C>T
ENST00000574590.5:c.2791C>T	ENSP00000461812.1:p.Arg931Trp
ENST00000574590.6:c.2788C>T	ENSP00000461812.2:p.Arg930Trp
ENST00000575318.5:c.2599C>T	ENSP00000461299.1:p.Arg867Trp
ENST00000575318.6:c.2599C>T	ENSP00000461299.1:p.Arg867Trp
ENST00000576137.1:n.430C>T
ENST00000576137.2:n.788C>T
ENST00000576870.5:n.763C>T
ENST00000638275.1:c.2599C>T	ENSP00000492576.1:p.Arg867Trp
ENST00000638291.1:n.619C>T
ENST00000638551.1:n.739C>T
ENST00000639150.1:c.1525C>T	ENSP00000491906.1:p.Arg509Trp
ENST00000639467.1:c.448C>T	ENSP00000492741.1:p.Arg150Trp
ENST00000639531.1:c.2602C>T	ENSP00000491765.1:p.Arg868Trp
ENST00000639805.1:n.208C>T
ENST00000640092.1:n.1478C>T
ENST00000640519.1:n.1889C>T
ENST00000640751.1:n.386C>T
ENST00000648792.1:c.2791C>T	ENSP00000497628.1:p.Arg931Trp
XM_006721823.1:c.2791C>T	XP_006721886.1:p.Arg931Trp
XM_006721823.2:c.2791C>T	XP_006721886.1:p.Arg931Trp
XM_006721824.2:c.2791C>T	XP_006721887.1:p.Arg931Trp
XM_006721824.4:c.2791C>T	XP_006721887.1:p.Arg931Trp
XM_011524628.1:c.2788C>T	XP_011522930.1:p.Arg930Trp
XM_011524628.3:c.2788C>T	XP_011522930.1:p.Arg930Trp
XM_011524629.1:c.2689C>T	XP_011522931.1:p.Arg897Trp
XM_011524629.3:c.2689C>T	XP_011522931.1:p.Arg897Trp
XM_011524630.1:c.2602C>T	XP_011522932.1:p.Arg868Trp
XM_011524630.3:c.2602C>T	XP_011522932.1:p.Arg868Trp
XM_011524631.1:c.2599C>T	XP_011522933.1:p.Arg867Trp
XM_011524631.3:c.2599C>T	XP_011522933.1:p.Arg867Trp
XM_011524632.1:c.1561C>T	XP_011522934.1:p.Arg521Trp
XM_011524632.3:c.1561C>T	XP_011522934.1:p.Arg521Trp
XM_017024488.2:c.2599C>T	XP_016879977.1:p.Arg867Trp