Canonical Allele Identifier: CA399986786

Gene: KANSL1

Linked Data

• MyVariant Identifiers: chr17:g.44109529G>C (hg19) ; chr17:g.46032163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032163G>C , CM000679.2:g.46032163G>C	GRCh38
NC_000017.10:g.44109529G>C , CM000679.1:g.44109529G>C	GRCh37
NC_000017.9:g.41465376G>C	NCBI36
NG_032784.1:g.198212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2974C>G MANE Select	ENSP00000387393.3:p.Pro992Ala
ENST00000572904.6:c.2974C>G	ENSP00000461484.1:p.Pro992Ala
ENST00000574590.6:c.2971C>G	ENSP00000461812.2:p.Pro991Ala
ENST00000575318.6:c.2782C>G	ENSP00000461299.1:p.Pro928Ala
ENST00000638275.1:c.2782C>G	ENSP00000492576.1:p.Pro928Ala
ENST00000639467.1:c.631C>G	ENSP00000492741.1:p.Pro211Ala
ENST00000639805.1:n.391C>G
ENST00000648792.1:c.2842C>G	ENSP00000497628.1:p.Pro948Ala
ENST00000262419.10:c.2974C>G	ENSP00000262419.6:p.Pro992Ala
ENST00000432791.5:c.2971C>G	ENSP00000387393.2:p.Pro991Ala
ENST00000572218.5:n.7191C>G
ENST00000572904.5:c.2974C>G	ENSP00000461484.1:p.Pro992Ala
ENST00000574590.5:c.2974C>G	ENSP00000461812.1:p.Pro992Ala
ENST00000574963.1:n.404C>G
ENST00000575318.5:c.2782C>G	ENSP00000461299.1:p.Pro928Ala
ENST00000576870.5:n.946C>G
NM_001193465.1:c.2971C>G	NP_001180394.1:p.Pro991Ala
NM_001193466.1:c.2974C>G	NP_001180395.1:p.Pro992Ala
NM_015443.3:c.2974C>G	NP_056258.1:p.Pro992Ala
XM_006721823.1:c.2974C>G	XP_006721886.1:p.Pro992Ala
XM_006721824.2:c.2974C>G	XP_006721887.1:p.Pro992Ala
XM_011524628.1:c.2971C>G	XP_011522930.1:p.Pro991Ala
XM_011524629.1:c.2872C>G	XP_011522931.1:p.Pro958Ala
XM_011524630.1:c.2785C>G	XP_011522932.1:p.Pro929Ala
XM_011524631.1:c.2782C>G	XP_011522933.1:p.Pro928Ala
XM_011524632.1:c.1744C>G	XP_011522934.1:p.Pro582Ala
XM_006721823.2:c.2974C>G	XP_006721886.1:p.Pro992Ala
XM_006721824.4:c.2974C>G	XP_006721887.1:p.Pro992Ala
XM_011524628.3:c.2971C>G	XP_011522930.1:p.Pro991Ala
XM_011524629.3:c.2872C>G	XP_011522931.1:p.Pro958Ala
XM_011524630.3:c.2785C>G	XP_011522932.1:p.Pro929Ala
XM_011524631.3:c.2782C>G	XP_011522933.1:p.Pro928Ala
XM_011524632.3:c.1744C>G	XP_011522934.1:p.Pro582Ala
XM_017024488.2:c.2782C>G	XP_016879977.1:p.Pro928Ala
NM_001193466.2:c.2974C>G	NP_001180395.1:p.Pro992Ala
NM_015443.4:c.2974C>G MANE Select	NP_056258.1:p.Pro992Ala
NM_001193465.2:c.2971C>G	NP_001180394.1:p.Pro991Ala
NM_001379198.1:c.2974C>G	NP_001366127.1:p.Pro992Ala