Canonical Allele Identifier: CA399980277

Gene: KANSL1

Linked Data

• MyVariant Identifiers: chr17:g.44115957A>C (hg19) ; chr17:g.46038591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038591A>C , CM000679.2:g.46038591A>C	GRCh38
NC_000017.10:g.44115957A>C , CM000679.1:g.44115957A>C	GRCh37
NC_000017.9:g.41471804A>C	NCBI36
NG_032784.1:g.191784T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2488T>G MANE Select	ENSP00000387393.3:p.Ser830Ala
ENST00000572904.6:c.2488T>G	ENSP00000461484.1:p.Ser830Ala
ENST00000573286.2:n.4171T>G
ENST00000574590.6:c.2488T>G	ENSP00000461812.2:p.Ser830Ala
ENST00000575318.6:c.2299T>G	ENSP00000461299.1:p.Ser767Ala
ENST00000576137.2:n.485T>G
ENST00000638275.1:c.2299T>G	ENSP00000492576.1:p.Ser767Ala
ENST00000639150.1:c.1222T>G	ENSP00000491906.1:p.Ser408Ala
ENST00000639467.1:c.151T>G	ENSP00000492741.1:p.Ser51Ala
ENST00000639531.1:c.2299T>G	ENSP00000491765.1:p.Ser767Ala
ENST00000640636.1:c.441T>G
ENST00000648792.1:c.2488T>G	ENSP00000497628.1:p.Ser830Ala
ENST00000262419.10:c.2488T>G	ENSP00000262419.6:p.Ser830Ala
ENST00000432791.5:c.2488T>G	ENSP00000387393.2:p.Ser830Ala
ENST00000572218.5:n.6705T>G
ENST00000572904.5:c.2488T>G	ENSP00000461484.1:p.Ser830Ala
ENST00000573286.1:n.344T>G
ENST00000574590.5:c.2488T>G	ENSP00000461812.1:p.Ser830Ala
ENST00000575318.5:c.2299T>G	ENSP00000461299.1:p.Ser767Ala
ENST00000576137.1:n.127T>G
ENST00000576870.5:n.460T>G
NM_001193465.1:c.2488T>G	NP_001180394.1:p.Ser830Ala
NM_001193466.1:c.2488T>G	NP_001180395.1:p.Ser830Ala
NM_015443.3:c.2488T>G	NP_056258.1:p.Ser830Ala
XM_006721823.1:c.2488T>G	XP_006721886.1:p.Ser830Ala
XM_006721824.2:c.2488T>G	XP_006721887.1:p.Ser830Ala
XM_011524628.1:c.2488T>G	XP_011522930.1:p.Ser830Ala
XM_011524629.1:c.2386T>G	XP_011522931.1:p.Ser796Ala
XM_011524630.1:c.2299T>G	XP_011522932.1:p.Ser767Ala
XM_011524631.1:c.2299T>G	XP_011522933.1:p.Ser767Ala
XM_011524632.1:c.1258T>G	XP_011522934.1:p.Ser420Ala
XM_006721823.2:c.2488T>G	XP_006721886.1:p.Ser830Ala
XM_006721824.4:c.2488T>G	XP_006721887.1:p.Ser830Ala
XM_011524628.3:c.2488T>G	XP_011522930.1:p.Ser830Ala
XM_011524629.3:c.2386T>G	XP_011522931.1:p.Ser796Ala
XM_011524630.3:c.2299T>G	XP_011522932.1:p.Ser767Ala
XM_011524631.3:c.2299T>G	XP_011522933.1:p.Ser767Ala
XM_011524632.3:c.1258T>G	XP_011522934.1:p.Ser420Ala
XM_017024488.2:c.2299T>G	XP_016879977.1:p.Ser767Ala
XM_017024489.1:c.2386T>G	XP_016879978.1:p.Ser796Ala
NM_001193466.2:c.2488T>G	NP_001180395.1:p.Ser830Ala
NM_015443.4:c.2488T>G MANE Select	NP_056258.1:p.Ser830Ala
NM_001193465.2:c.2488T>G	NP_001180394.1:p.Ser830Ala
NM_001379198.1:c.2488T>G	NP_001366127.1:p.Ser830Ala