Canonical Allele Identifier: CA399981369

Gene: KANSL1

Linked Data

• MyVariant Identifiers: chr17:g.44116546G>A (hg19) ; chr17:g.46039180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039180G>A , CM000679.2:g.46039180G>A	GRCh38
NC_000017.10:g.44116546G>A , CM000679.1:g.44116546G>A	GRCh37
NC_000017.9:g.41472393G>A	NCBI36
NG_032784.1:g.191195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2239C>T MANE Select	ENSP00000387393.3:p.His747Tyr
ENST00000572904.6:c.2239C>T	ENSP00000461484.1:p.His747Tyr
ENST00000573286.2:n.3922C>T
ENST00000574590.6:c.2239C>T	ENSP00000461812.2:p.His747Tyr
ENST00000575318.6:c.2204-494C>T	ENSP00000461299.1:n.2204-494C>T
ENST00000638275.1:c.2204-494C>T	ENSP00000492576.1:n.2204-494C>T
ENST00000639150.1:c.973C>T	ENSP00000491906.1:p.His325Tyr
ENST00000639531.1:c.2204-494C>T	ENSP00000491765.1:n.2204-494C>T
ENST00000639853.1:c.1375-494C>T
ENST00000640636.1:c.346-494C>T
ENST00000648792.1:c.2239C>T	ENSP00000497628.1:p.His747Tyr
ENST00000262419.10:c.2239C>T	ENSP00000262419.6:p.His747Tyr
ENST00000432791.5:c.2239C>T	ENSP00000387393.2:p.His747Tyr
ENST00000572218.5:n.6456C>T
ENST00000572679.1:n.371C>T
ENST00000572904.5:c.2239C>T	ENSP00000461484.1:p.His747Tyr
ENST00000573286.1:n.95C>T
ENST00000574590.5:c.2239C>T	ENSP00000461812.1:p.His747Tyr
ENST00000575318.5:c.2204-494C>T	ENSP00000461299.1:n.2204-494C>T
ENST00000576870.5:n.365-494C>T
NM_001193465.1:c.2239C>T	NP_001180394.1:p.His747Tyr
NM_001193466.1:c.2239C>T	NP_001180395.1:p.His747Tyr
NM_015443.3:c.2239C>T	NP_056258.1:p.His747Tyr
XM_006721823.1:c.2239C>T	XP_006721886.1:p.His747Tyr
XM_006721824.2:c.2239C>T	XP_006721887.1:p.His747Tyr
XM_011524628.1:c.2239C>T	XP_011522930.1:p.His747Tyr
XM_011524629.1:c.2137C>T	XP_011522931.1:p.His713Tyr
XM_011524630.1:c.2204-494C>T	XP_011522932.1:n.2204-494C>T
XM_011524631.1:c.2204-494C>T	XP_011522933.1:n.2204-494C>T
XM_011524632.1:c.1009C>T	XP_011522934.1:p.His337Tyr
XM_006721823.2:c.2239C>T	XP_006721886.1:p.His747Tyr
XM_006721824.4:c.2239C>T	XP_006721887.1:p.His747Tyr
XM_011524628.3:c.2239C>T	XP_011522930.1:p.His747Tyr
XM_011524629.3:c.2137C>T	XP_011522931.1:p.His713Tyr
XM_011524630.3:c.2204-494C>T	XP_011522932.1:n.2204-494C>T
XM_011524631.3:c.2204-494C>T	XP_011522933.1:n.2204-494C>T
XM_011524632.3:c.1009C>T	XP_011522934.1:p.His337Tyr
XM_017024488.2:c.2204-494C>T	XP_016879977.1:n.2204-494C>T
XM_017024489.1:c.2137C>T	XP_016879978.1:p.His713Tyr
NM_001193466.2:c.2239C>T	NP_001180395.1:p.His747Tyr
NM_015443.4:c.2239C>T MANE Select	NP_056258.1:p.His747Tyr
NM_001193465.2:c.2239C>T	NP_001180394.1:p.His747Tyr
NM_001379198.1:c.2239C>T	NP_001366127.1:p.His747Tyr