Canonical Allele Identifier: CA500372007

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 506877
• ClinVar RCV Id: RCV000613854 ; RCV001441946
• dbSNP Id: rs767403167
• MyVariant Identifiers: chr17:g.44109545A>G (hg19) ; chr17:g.46032179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032179A>G , CM000679.2:g.46032179A>G	GRCh38
NC_000017.10:g.44109545A>G , CM000679.1:g.44109545A>G	GRCh37
NC_000017.9:g.41465392A>G	NCBI36
NG_032784.1:g.198196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2958T>C MANE Select	ENSP00000387393.3:p.Gly986=
ENST00000572904.6:c.2958T>C	ENSP00000461484.1:p.Gly986=
ENST00000574590.6:c.2955T>C	ENSP00000461812.2:p.Gly985=
ENST00000575318.6:c.2766T>C	ENSP00000461299.1:p.Gly922=
ENST00000638275.1:c.2766T>C	ENSP00000492576.1:p.Gly922=
ENST00000639467.1:c.615T>C	ENSP00000492741.1:p.Gly205=
ENST00000639805.1:n.375T>C
ENST00000648792.1:c.2838-12T>C	ENSP00000497628.1:n.2838-12T>C
ENST00000262419.10:c.2958T>C	ENSP00000262419.6:p.Gly986=
ENST00000432791.5:c.2955T>C	ENSP00000387393.2:p.Gly985=
ENST00000572218.5:n.7175T>C
ENST00000572904.5:c.2958T>C	ENSP00000461484.1:p.Gly986=
ENST00000573682.1:n.344T>C
ENST00000574590.5:c.2958T>C	ENSP00000461812.1:p.Gly986=
ENST00000574963.1:n.388T>C
ENST00000575318.5:c.2766T>C	ENSP00000461299.1:p.Gly922=
ENST00000576870.5:n.930T>C
NM_001193465.1:c.2955T>C	NP_001180394.1:p.Gly985=
NM_001193466.1:c.2958T>C	NP_001180395.1:p.Gly986=
NM_015443.3:c.2958T>C	NP_056258.1:p.Gly986=
XM_006721823.1:c.2958T>C	XP_006721886.1:p.Gly986=
XM_006721824.2:c.2958T>C	XP_006721887.1:p.Gly986=
XM_011524628.1:c.2955T>C	XP_011522930.1:p.Gly985=
XM_011524629.1:c.2856T>C	XP_011522931.1:p.Gly952=
XM_011524630.1:c.2769T>C	XP_011522932.1:p.Gly923=
XM_011524631.1:c.2766T>C	XP_011522933.1:p.Gly922=
XM_011524632.1:c.1728T>C	XP_011522934.1:p.Gly576=
XM_006721823.2:c.2958T>C	XP_006721886.1:p.Gly986=
XM_006721824.4:c.2958T>C	XP_006721887.1:p.Gly986=
XM_011524628.3:c.2955T>C	XP_011522930.1:p.Gly985=
XM_011524629.3:c.2856T>C	XP_011522931.1:p.Gly952=
XM_011524630.3:c.2769T>C	XP_011522932.1:p.Gly923=
XM_011524631.3:c.2766T>C	XP_011522933.1:p.Gly922=
XM_011524632.3:c.1728T>C	XP_011522934.1:p.Gly576=
XM_017024488.2:c.2766T>C	XP_016879977.1:p.Gly922=
NM_001193466.2:c.2958T>C	NP_001180395.1:p.Gly986=
NM_015443.4:c.2958T>C MANE Select	NP_056258.1:p.Gly986=
NM_001193465.2:c.2955T>C	NP_001180394.1:p.Gly985=
NM_001379198.1:c.2958T>C	NP_001366127.1:p.Gly986=