Canonical Allele Identifier: CA399985956

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46031592-A-G
• MyVariant Identifiers: chr17:g.44108958A>G (hg19) ; chr17:g.46031592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031592A>G , CM000679.2:g.46031592A>G	GRCh38
NC_000017.10:g.44108958A>G , CM000679.1:g.44108958A>G	GRCh37
NC_000017.9:g.41464805A>G	NCBI36
NG_032784.1:g.198783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3202T>C MANE Select	ENSP00000387393.3:p.Ser1068Pro
ENST00000572904.6:c.3202T>C	ENSP00000461484.1:p.Ser1068Pro
ENST00000574590.6:c.3199T>C	ENSP00000461812.2:p.Ser1067Pro
ENST00000575318.6:c.3010T>C	ENSP00000461299.1:p.Ser1004Pro
ENST00000638275.1:c.3010T>C	ENSP00000492576.1:p.Ser1004Pro
ENST00000648792.1:c.3070T>C	ENSP00000497628.1:p.Ser1024Pro
ENST00000262419.10:c.3202T>C	ENSP00000262419.6:p.Ser1068Pro
ENST00000432791.5:c.3199T>C	ENSP00000387393.2:p.Ser1067Pro
ENST00000572218.5:n.7419T>C
ENST00000572904.5:c.3202T>C	ENSP00000461484.1:p.Ser1068Pro
ENST00000574590.5:c.3202T>C	ENSP00000461812.1:p.Ser1068Pro
ENST00000574963.1:n.975T>C
ENST00000575318.5:c.3010T>C	ENSP00000461299.1:p.Ser1004Pro
ENST00000576870.5:n.1174T>C
NM_001193465.1:c.3199T>C	NP_001180394.1:p.Ser1067Pro
NM_001193466.1:c.3202T>C	NP_001180395.1:p.Ser1068Pro
NM_015443.3:c.3202T>C	NP_056258.1:p.Ser1068Pro
XM_006721823.1:c.3202T>C	XP_006721886.1:p.Ser1068Pro
XM_006721824.2:c.3202T>C	XP_006721887.1:p.Ser1068Pro
XM_011524628.1:c.3199T>C	XP_011522930.1:p.Ser1067Pro
XM_011524629.1:c.3100T>C	XP_011522931.1:p.Ser1034Pro
XM_011524630.1:c.3013T>C	XP_011522932.1:p.Ser1005Pro
XM_011524631.1:c.3010T>C	XP_011522933.1:p.Ser1004Pro
XM_011524632.1:c.1972T>C	XP_011522934.1:p.Ser658Pro
XM_006721823.2:c.3202T>C	XP_006721886.1:p.Ser1068Pro
XM_006721824.4:c.3202T>C	XP_006721887.1:p.Ser1068Pro
XM_011524628.3:c.3199T>C	XP_011522930.1:p.Ser1067Pro
XM_011524629.3:c.3100T>C	XP_011522931.1:p.Ser1034Pro
XM_011524630.3:c.3013T>C	XP_011522932.1:p.Ser1005Pro
XM_011524631.3:c.3010T>C	XP_011522933.1:p.Ser1004Pro
XM_011524632.3:c.1972T>C	XP_011522934.1:p.Ser658Pro
XM_017024488.2:c.3010T>C	XP_016879977.1:p.Ser1004Pro
NM_001193466.2:c.3202T>C	NP_001180395.1:p.Ser1068Pro
NM_015443.4:c.3202T>C MANE Select	NP_056258.1:p.Ser1068Pro
NM_001193465.2:c.3199T>C	NP_001180394.1:p.Ser1067Pro
NM_001379198.1:c.3202T>C	NP_001366127.1:p.Ser1068Pro