Canonical Allele Identifier: CA399987279

Gene: KANSL1

Linked Data

• MyVariant Identifiers: chr17:g.44109621C>G (hg19) ; chr17:g.46032255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032255C>G , CM000679.2:g.46032255C>G	GRCh38
NC_000017.10:g.44109621C>G , CM000679.1:g.44109621C>G	GRCh37
NC_000017.9:g.41465468C>G	NCBI36
NG_032784.1:g.198120G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2882G>C MANE Select	ENSP00000387393.3:p.Ser961Thr
ENST00000572904.6:c.2882G>C	ENSP00000461484.1:p.Ser961Thr
ENST00000574590.6:c.2879G>C	ENSP00000461812.2:p.Ser960Thr
ENST00000575318.6:c.2690G>C	ENSP00000461299.1:p.Ser897Thr
ENST00000638275.1:c.2690G>C	ENSP00000492576.1:p.Ser897Thr
ENST00000638291.1:n.710G>C
ENST00000638551.1:n.830G>C
ENST00000639467.1:c.539G>C	ENSP00000492741.1:p.Ser180Thr
ENST00000639805.1:n.299G>C
ENST00000648792.1:c.2838-88G>C	ENSP00000497628.1:n.2838-88G>C
ENST00000262419.10:c.2882G>C	ENSP00000262419.6:p.Ser961Thr
ENST00000432791.5:c.2879G>C	ENSP00000387393.2:p.Ser960Thr
ENST00000572218.5:n.7099G>C
ENST00000572904.5:c.2882G>C	ENSP00000461484.1:p.Ser961Thr
ENST00000573682.1:n.268G>C
ENST00000574590.5:c.2882G>C	ENSP00000461812.1:p.Ser961Thr
ENST00000574963.1:n.312G>C
ENST00000575318.5:c.2690G>C	ENSP00000461299.1:p.Ser897Thr
ENST00000576870.5:n.854G>C
NM_001193465.1:c.2879G>C	NP_001180394.1:p.Ser960Thr
NM_001193466.1:c.2882G>C	NP_001180395.1:p.Ser961Thr
NM_015443.3:c.2882G>C	NP_056258.1:p.Ser961Thr
XM_006721823.1:c.2882G>C	XP_006721886.1:p.Ser961Thr
XM_006721824.2:c.2882G>C	XP_006721887.1:p.Ser961Thr
XM_011524628.1:c.2879G>C	XP_011522930.1:p.Ser960Thr
XM_011524629.1:c.2780G>C	XP_011522931.1:p.Ser927Thr
XM_011524630.1:c.2693G>C	XP_011522932.1:p.Ser898Thr
XM_011524631.1:c.2690G>C	XP_011522933.1:p.Ser897Thr
XM_011524632.1:c.1652G>C	XP_011522934.1:p.Ser551Thr
XM_006721823.2:c.2882G>C	XP_006721886.1:p.Ser961Thr
XM_006721824.4:c.2882G>C	XP_006721887.1:p.Ser961Thr
XM_011524628.3:c.2879G>C	XP_011522930.1:p.Ser960Thr
XM_011524629.3:c.2780G>C	XP_011522931.1:p.Ser927Thr
XM_011524630.3:c.2693G>C	XP_011522932.1:p.Ser898Thr
XM_011524631.3:c.2690G>C	XP_011522933.1:p.Ser897Thr
XM_011524632.3:c.1652G>C	XP_011522934.1:p.Ser551Thr
XM_017024488.2:c.2690G>C	XP_016879977.1:p.Ser897Thr
NM_001193466.2:c.2882G>C	NP_001180395.1:p.Ser961Thr
NM_015443.4:c.2882G>C MANE Select	NP_056258.1:p.Ser961Thr
NM_001193465.2:c.2879G>C	NP_001180394.1:p.Ser960Thr
NM_001379198.1:c.2882G>C	NP_001366127.1:p.Ser961Thr