Canonical Allele Identifier: CA500372033
Gene: KANSL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.44109590G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46032224G>C , CM000679.2:g.46032224G>C GRCh38
NC_000017.10:g.44109590G>C , CM000679.1:g.44109590G>C GRCh37
NC_000017.9:g.41465437G>C NCBI36
NG_032784.1:g.198151C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.2913C>G MANE Select ENSP00000387393.3:p.Ser971=
ENST00000572904.6:c.2913C>G ENSP00000461484.1:p.Ser971=
ENST00000574590.6:c.2910C>G ENSP00000461812.2:p.Ser970=
ENST00000575318.6:c.2721C>G ENSP00000461299.1:p.Ser907=
ENST00000638275.1:c.2721C>G ENSP00000492576.1:p.Ser907=
ENST00000638291.1:n.741C>G
ENST00000638551.1:n.861C>G
ENST00000639467.1:c.570C>G ENSP00000492741.1:p.Ser190=
ENST00000639805.1:n.330C>G
ENST00000648792.1:c.2838-57C>G ENSP00000497628.1:n.2838-57C>G
ENST00000262419.10:c.2913C>G ENSP00000262419.6:p.Ser971=
ENST00000432791.5:c.2910C>G ENSP00000387393.2:p.Ser970=
ENST00000572218.5:n.7130C>G
ENST00000572904.5:c.2913C>G ENSP00000461484.1:p.Ser971=
ENST00000573682.1:n.299C>G
ENST00000574590.5:c.2913C>G ENSP00000461812.1:p.Ser971=
ENST00000574963.1:n.343C>G
ENST00000575318.5:c.2721C>G ENSP00000461299.1:p.Ser907=
ENST00000576870.5:n.885C>G
NM_001193465.1:c.2910C>G NP_001180394.1:p.Ser970=
NM_001193466.1:c.2913C>G NP_001180395.1:p.Ser971=
NM_015443.3:c.2913C>G NP_056258.1:p.Ser971=
XM_006721823.1:c.2913C>G XP_006721886.1:p.Ser971=
XM_006721824.2:c.2913C>G XP_006721887.1:p.Ser971=
XM_011524628.1:c.2910C>G XP_011522930.1:p.Ser970=
XM_011524629.1:c.2811C>G XP_011522931.1:p.Ser937=
XM_011524630.1:c.2724C>G XP_011522932.1:p.Ser908=
XM_011524631.1:c.2721C>G XP_011522933.1:p.Ser907=
XM_011524632.1:c.1683C>G XP_011522934.1:p.Ser561=
XM_006721823.2:c.2913C>G XP_006721886.1:p.Ser971=
XM_006721824.4:c.2913C>G XP_006721887.1:p.Ser971=
XM_011524628.3:c.2910C>G XP_011522930.1:p.Ser970=
XM_011524629.3:c.2811C>G XP_011522931.1:p.Ser937=
XM_011524630.3:c.2724C>G XP_011522932.1:p.Ser908=
XM_011524631.3:c.2721C>G XP_011522933.1:p.Ser907=
XM_011524632.3:c.1683C>G XP_011522934.1:p.Ser561=
XM_017024488.2:c.2721C>G XP_016879977.1:p.Ser907=
NM_001193466.2:c.2913C>G NP_001180395.1:p.Ser971=
NM_015443.4:c.2913C>G MANE Select NP_056258.1:p.Ser971=
NM_001193465.2:c.2910C>G NP_001180394.1:p.Ser970=
NM_001379198.1:c.2913C>G NP_001366127.1:p.Ser971=