Canonical Allele Identifier: CA399987810

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46067658-C-T
• MyVariant Identifiers: chr17:g.46067658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46067658C>T , CM000679.2:g.46067658C>T	GRCh38
NC_000017.9:g.41500846C>T	NCBI36
NG_032784.1:g.162717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.1543G>A MANE Select	ENSP00000387393.3:p.Val515Ile
ENST00000571698.2:c.1543G>A	ENSP00000459330.2:p.Val515Ile
ENST00000572904.6:c.1543G>A	ENSP00000461484.1:p.Val515Ile
ENST00000574590.6:c.1543G>A	ENSP00000461812.2:p.Val515Ile
ENST00000575318.6:c.1543G>A	ENSP00000461299.1:p.Val515Ile
ENST00000577114.2:n.269G>A
ENST00000638275.1:c.1543G>A	ENSP00000492576.1:p.Val515Ile
ENST00000639150.1:c.277G>A	ENSP00000491906.1:p.Val93Ile
ENST00000639375.1:n.1781G>A
ENST00000639531.1:c.1543G>A	ENSP00000491765.1:p.Val515Ile
ENST00000639853.1:c.714G>A
ENST00000648792.1:c.1543G>A	ENSP00000497628.1:p.Val515Ile
ENST00000262419.10:c.1543G>A	ENSP00000262419.6:p.Val515Ile
ENST00000432791.5:c.1543G>A	ENSP00000387393.2:p.Val515Ile
ENST00000572904.5:c.1543G>A	ENSP00000461484.1:p.Val515Ile
ENST00000574590.5:c.1543G>A	ENSP00000461812.1:p.Val515Ile
ENST00000575318.5:c.1543G>A	ENSP00000461299.1:p.Val515Ile
ENST00000577114.1:n.340G>A
NM_001193465.1:c.1543G>A	NP_001180394.1:p.Val515Ile
NM_001193466.1:c.1543G>A	NP_001180395.1:p.Val515Ile
NM_015443.3:c.1543G>A	NP_056258.1:p.Val515Ile
XM_006721823.1:c.1543G>A	XP_006721886.1:p.Val515Ile
XM_006721824.2:c.1543G>A	XP_006721887.1:p.Val515Ile
XM_011524628.1:c.1543G>A	XP_011522930.1:p.Val515Ile
XM_011524629.1:c.1441G>A	XP_011522931.1:p.Val481Ile
XM_011524630.1:c.1543G>A	XP_011522932.1:p.Val515Ile
XM_011524631.1:c.1543G>A	XP_011522933.1:p.Val515Ile
XM_011524632.1:c.313G>A	XP_011522934.1:p.Val105Ile
XM_006721823.2:c.1543G>A	XP_006721886.1:p.Val515Ile
XM_006721824.4:c.1543G>A	XP_006721887.1:p.Val515Ile
XM_011524628.3:c.1543G>A	XP_011522930.1:p.Val515Ile
XM_011524629.3:c.1441G>A	XP_011522931.1:p.Val481Ile
XM_011524630.3:c.1543G>A	XP_011522932.1:p.Val515Ile
XM_011524631.3:c.1543G>A	XP_011522933.1:p.Val515Ile
XM_011524632.3:c.313G>A	XP_011522934.1:p.Val105Ile
XM_017024488.2:c.1543G>A	XP_016879977.1:p.Val515Ile
XM_017024489.1:c.1441G>A	XP_016879978.1:p.Val481Ile
NM_001193466.2:c.1543G>A	NP_001180395.1:p.Val515Ile
NM_015443.4:c.1543G>A MANE Select	NP_056258.1:p.Val515Ile
NM_001193465.2:c.1543G>A	NP_001180394.1:p.Val515Ile
NM_001379198.1:c.1543G>A	NP_001366127.1:p.Val515Ile