Canonical Allele Identifier: CA399987243

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46032246-G-A
• COSMIC: COSM3518369
• MyVariant Identifiers: chr17:g.44109612G>A (hg19) ; chr17:g.46032246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032246G>A , CM000679.2:g.46032246G>A	GRCh38
NC_000017.10:g.44109612G>A , CM000679.1:g.44109612G>A	GRCh37
NC_000017.9:g.41465459G>A	NCBI36
NG_032784.1:g.198129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2891C>T MANE Select	ENSP00000387393.3:p.Pro964Leu
ENST00000572904.6:c.2891C>T	ENSP00000461484.1:p.Pro964Leu
ENST00000574590.6:c.2888C>T	ENSP00000461812.2:p.Pro963Leu
ENST00000575318.6:c.2699C>T	ENSP00000461299.1:p.Pro900Leu
ENST00000638275.1:c.2699C>T	ENSP00000492576.1:p.Pro900Leu
ENST00000638291.1:n.719C>T
ENST00000638551.1:n.839C>T
ENST00000639467.1:c.548C>T	ENSP00000492741.1:p.Pro183Leu
ENST00000639805.1:n.308C>T
ENST00000648792.1:c.2838-79C>T	ENSP00000497628.1:n.2838-79C>T
ENST00000262419.10:c.2891C>T	ENSP00000262419.6:p.Pro964Leu
ENST00000432791.5:c.2888C>T	ENSP00000387393.2:p.Pro963Leu
ENST00000572218.5:n.7108C>T
ENST00000572904.5:c.2891C>T	ENSP00000461484.1:p.Pro964Leu
ENST00000573682.1:n.277C>T
ENST00000574590.5:c.2891C>T	ENSP00000461812.1:p.Pro964Leu
ENST00000574963.1:n.321C>T
ENST00000575318.5:c.2699C>T	ENSP00000461299.1:p.Pro900Leu
ENST00000576870.5:n.863C>T
NM_001193465.1:c.2888C>T	NP_001180394.1:p.Pro963Leu
NM_001193466.1:c.2891C>T	NP_001180395.1:p.Pro964Leu
NM_015443.3:c.2891C>T	NP_056258.1:p.Pro964Leu
XM_006721823.1:c.2891C>T	XP_006721886.1:p.Pro964Leu
XM_006721824.2:c.2891C>T	XP_006721887.1:p.Pro964Leu
XM_011524628.1:c.2888C>T	XP_011522930.1:p.Pro963Leu
XM_011524629.1:c.2789C>T	XP_011522931.1:p.Pro930Leu
XM_011524630.1:c.2702C>T	XP_011522932.1:p.Pro901Leu
XM_011524631.1:c.2699C>T	XP_011522933.1:p.Pro900Leu
XM_011524632.1:c.1661C>T	XP_011522934.1:p.Pro554Leu
XM_006721823.2:c.2891C>T	XP_006721886.1:p.Pro964Leu
XM_006721824.4:c.2891C>T	XP_006721887.1:p.Pro964Leu
XM_011524628.3:c.2888C>T	XP_011522930.1:p.Pro963Leu
XM_011524629.3:c.2789C>T	XP_011522931.1:p.Pro930Leu
XM_011524630.3:c.2702C>T	XP_011522932.1:p.Pro901Leu
XM_011524631.3:c.2699C>T	XP_011522933.1:p.Pro900Leu
XM_011524632.3:c.1661C>T	XP_011522934.1:p.Pro554Leu
XM_017024488.2:c.2699C>T	XP_016879977.1:p.Pro900Leu
NM_001193466.2:c.2891C>T	NP_001180395.1:p.Pro964Leu
NM_015443.4:c.2891C>T MANE Select	NP_056258.1:p.Pro964Leu
NM_001193465.2:c.2888C>T	NP_001180394.1:p.Pro963Leu
NM_001379198.1:c.2891C>T	NP_001366127.1:p.Pro964Leu