Canonical Allele Identifier: CA399985530
Gene: KANSL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46031508C>A , CM000679.2:g.46031508C>A GRCh38
NC_000017.10:g.44108874C>A , CM000679.1:g.44108874C>A GRCh37
NC_000017.9:g.41464721C>A NCBI36
NG_032784.1:g.198867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432791.7:c.3286G>T MANE Select ENSP00000387393.3:p.Ala1096Ser
ENST00000572904.6:c.3286G>T ENSP00000461484.1:p.Ala1096Ser
ENST00000574590.6:c.3283G>T ENSP00000461812.2:p.Ala1095Ser
ENST00000575318.6:c.3094G>T ENSP00000461299.1:p.Ala1032Ser
ENST00000638275.1:c.3094G>T ENSP00000492576.1:p.Ala1032Ser
ENST00000648792.1:c.3154G>T ENSP00000497628.1:p.Ala1052Ser
ENST00000262419.10:c.3286G>T ENSP00000262419.6:p.Ala1096Ser
ENST00000432791.5:c.3283G>T ENSP00000387393.2:p.Ala1095Ser
ENST00000572218.5:n.7503G>T
ENST00000572904.5:c.3286G>T ENSP00000461484.1:p.Ala1096Ser
ENST00000574590.5:c.3286G>T ENSP00000461812.1:p.Ala1096Ser
ENST00000574963.1:n.1059G>T
ENST00000575318.5:c.3094G>T ENSP00000461299.1:p.Ala1032Ser
ENST00000576870.5:n.1258G>T
NM_001193465.1:c.3283G>T NP_001180394.1:p.Ala1095Ser
NM_001193466.1:c.3286G>T NP_001180395.1:p.Ala1096Ser
NM_015443.3:c.3286G>T NP_056258.1:p.Ala1096Ser
XM_006721823.1:c.3286G>T XP_006721886.1:p.Ala1096Ser
XM_006721824.2:c.3286G>T XP_006721887.1:p.Ala1096Ser
XM_011524628.1:c.3283G>T XP_011522930.1:p.Ala1095Ser
XM_011524629.1:c.3184G>T XP_011522931.1:p.Ala1062Ser
XM_011524630.1:c.3097G>T XP_011522932.1:p.Ala1033Ser
XM_011524631.1:c.3094G>T XP_011522933.1:p.Ala1032Ser
XM_011524632.1:c.2056G>T XP_011522934.1:p.Ala686Ser
XM_006721823.2:c.3286G>T XP_006721886.1:p.Ala1096Ser
XM_006721824.4:c.3286G>T XP_006721887.1:p.Ala1096Ser
XM_011524628.3:c.3283G>T XP_011522930.1:p.Ala1095Ser
XM_011524629.3:c.3184G>T XP_011522931.1:p.Ala1062Ser
XM_011524630.3:c.3097G>T XP_011522932.1:p.Ala1033Ser
XM_011524631.3:c.3094G>T XP_011522933.1:p.Ala1032Ser
XM_011524632.3:c.2056G>T XP_011522934.1:p.Ala686Ser
XM_017024488.2:c.3094G>T XP_016879977.1:p.Ala1032Ser
NM_001193466.2:c.3286G>T NP_001180395.1:p.Ala1096Ser
NM_015443.4:c.3286G>T MANE Select NP_056258.1:p.Ala1096Ser
NM_001193465.2:c.3283G>T NP_001180394.1:p.Ala1095Ser
NM_001379198.1:c.3286G>T NP_001366127.1:p.Ala1096Ser