Canonical Allele Identifier: CA399986034

Gene: KANSL1

Linked Data

• ClinVar Variation Id: 2130381
• ClinVar RCV Id: RCV003052056
• MyVariant Identifiers: chr17:g.44108996T>C (hg19) ; chr17:g.46031630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031630T>C , CM000679.2:g.46031630T>C	GRCh38
NC_000017.10:g.44108996T>C , CM000679.1:g.44108996T>C	GRCh37
NC_000017.9:g.41464843T>C	NCBI36
NG_032784.1:g.198745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3164A>G MANE Select	ENSP00000387393.3:p.Asp1055Gly
ENST00000572904.6:c.3164A>G	ENSP00000461484.1:p.Asp1055Gly
ENST00000574590.6:c.3161A>G	ENSP00000461812.2:p.Asp1054Gly
ENST00000575318.6:c.2972A>G	ENSP00000461299.1:p.Asp991Gly
ENST00000638275.1:c.2972A>G	ENSP00000492576.1:p.Asp991Gly
ENST00000648792.1:c.3032A>G	ENSP00000497628.1:p.Asp1011Gly
ENST00000262419.10:c.3164A>G	ENSP00000262419.6:p.Asp1055Gly
ENST00000432791.5:c.3161A>G	ENSP00000387393.2:p.Asp1054Gly
ENST00000572218.5:n.7381A>G
ENST00000572904.5:c.3164A>G	ENSP00000461484.1:p.Asp1055Gly
ENST00000574590.5:c.3164A>G	ENSP00000461812.1:p.Asp1055Gly
ENST00000574963.1:n.937A>G
ENST00000575318.5:c.2972A>G	ENSP00000461299.1:p.Asp991Gly
ENST00000576870.5:n.1136A>G
NM_001193465.1:c.3161A>G	NP_001180394.1:p.Asp1054Gly
NM_001193466.1:c.3164A>G	NP_001180395.1:p.Asp1055Gly
NM_015443.3:c.3164A>G	NP_056258.1:p.Asp1055Gly
XM_006721823.1:c.3164A>G	XP_006721886.1:p.Asp1055Gly
XM_006721824.2:c.3164A>G	XP_006721887.1:p.Asp1055Gly
XM_011524628.1:c.3161A>G	XP_011522930.1:p.Asp1054Gly
XM_011524629.1:c.3062A>G	XP_011522931.1:p.Asp1021Gly
XM_011524630.1:c.2975A>G	XP_011522932.1:p.Asp992Gly
XM_011524631.1:c.2972A>G	XP_011522933.1:p.Asp991Gly
XM_011524632.1:c.1934A>G	XP_011522934.1:p.Asp645Gly
XM_006721823.2:c.3164A>G	XP_006721886.1:p.Asp1055Gly
XM_006721824.4:c.3164A>G	XP_006721887.1:p.Asp1055Gly
XM_011524628.3:c.3161A>G	XP_011522930.1:p.Asp1054Gly
XM_011524629.3:c.3062A>G	XP_011522931.1:p.Asp1021Gly
XM_011524630.3:c.2975A>G	XP_011522932.1:p.Asp992Gly
XM_011524631.3:c.2972A>G	XP_011522933.1:p.Asp991Gly
XM_011524632.3:c.1934A>G	XP_011522934.1:p.Asp645Gly
XM_017024488.2:c.2972A>G	XP_016879977.1:p.Asp991Gly
NM_001193466.2:c.3164A>G	NP_001180395.1:p.Asp1055Gly
NM_015443.4:c.3164A>G MANE Select	NP_056258.1:p.Asp1055Gly
NM_001193465.2:c.3161A>G	NP_001180394.1:p.Asp1054Gly
NM_001379198.1:c.3164A>G	NP_001366127.1:p.Asp1055Gly