Canonical Allele Identifier: CA399984582
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46024107A>T , CM000679.2:g.46024107A>T GRCh38
NC_000017.10:g.44101473A>T , CM000679.1:g.44101473A>T GRCh37
NC_000017.9:g.41457318A>T NCBI36
NG_007398.1:g.134695A>T
NG_007398.2:g.134645A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.1175A>T ENSP00000413056.2:p.Asp392Val
ENST00000703922.1:c.1175A>T ENSP00000515557.1:p.Asp392Val
ENST00000703923.1:c.1088A>T ENSP00000515558.1:p.Asp363Val
ENST00000703924.1:c.1175A>T ENSP00000515559.1:p.Asp392Val
ENST00000703978.1:c.1262A>T ENSP00000515600.1:p.Asp421Val
ENST00000703980.1:n.488A>T
ENST00000703981.1:n.446A>T
ENST00000703982.1:n.680A>T
ENST00000262410.10:c.2438A>T MANE Select ENSP00000262410.6:p.Asp813Val
ENST00000344290.10:c.2147A>T ENSP00000340820.6:p.Asp716Val
ENST00000351559.10:c.1262A>T ENSP00000303214.7:p.Asp421Val
ENST00000535772.6:c.1082A>T ENSP00000443028.2:p.Asp361Val
ENST00000680542.1:c.1175A>T ENSP00000505258.1:p.Asp392Val
ENST00000680674.1:c.1211A>T ENSP00000505478.1:p.Asp404Val
ENST00000262410.9:c.2213A>T ENSP00000262410.5:p.Asp738Val
ENST00000334239.12:c.995A>T ENSP00000334886.8:p.Asp332Val
ENST00000340799.9:c.1175A>T ENSP00000340438.5:p.Asp392Val
ENST00000344290.9:c.2267A>T ENSP00000340820.5:p.Asp756Val
ENST00000351559.9:c.1262A>T ENSP00000303214.7:p.Asp421Val
ENST00000415613.6:c.2267A>T ENSP00000410838.2:p.Asp756Val
ENST00000420682.6:c.1175A>T ENSP00000413056.2:p.Asp392Val
ENST00000431008.7:c.1169A>T ENSP00000389250.3:p.Asp390Val
ENST00000446361.7:c.1088A>T ENSP00000408975.3:p.Asp363Val
ENST00000535772.5:c.1169A>T ENSP00000443028.1:p.Asp390Val
ENST00000571987.5:c.2213A>T ENSP00000458742.1:p.Asp738Val
ENST00000574436.5:c.1262A>T ENSP00000460965.1:p.Asp421Val
ENST00000576518.1:n.6454A>T
NM_001123066.3:c.2267A>T NP_001116538.2:p.Asp756Val
NM_001123067.3:c.1175A>T NP_001116539.1:p.Asp392Val
NM_001203251.1:c.1082A>T NP_001190180.1:p.Asp361Val
NM_001203252.1:c.1169A>T NP_001190181.1:p.Asp390Val
NM_005910.5:c.1262A>T NP_005901.2:p.Asp421Val
NM_016834.4:c.1088A>T NP_058518.1:p.Asp363Val
NM_016835.4:c.2213A>T NP_058519.3:p.Asp738Val
NM_016841.4:c.995A>T NP_058525.1:p.Asp332Val
XM_005257362.3:c.2525A>T XP_005257419.1:p.Asp842Val
XM_005257364.3:c.2438A>T XP_005257421.1:p.Asp813Val
XM_005257365.3:c.2432A>T XP_005257422.1:p.Asp811Val
XM_005257366.2:c.2351A>T XP_005257423.1:p.Asp784Val
XM_005257367.3:c.2327A>T XP_005257424.1:p.Asp776Val
XM_005257368.3:c.2234A>T XP_005257425.1:p.Asp745Val
XM_005257369.3:c.1460A>T XP_005257426.1:p.Asp487Val
XM_005257370.3:c.1373A>T XP_005257427.1:p.Asp458Val
XM_005257371.3:c.1286A>T XP_005257428.1:p.Asp429Val
XM_005257362.4:c.2525A>T XP_005257419.1:p.Asp842Val
XM_005257364.4:c.2438A>T XP_005257421.1:p.Asp813Val
XM_005257365.4:c.2432A>T XP_005257422.1:p.Asp811Val
XM_005257366.3:c.2351A>T XP_005257423.1:p.Asp784Val
XM_005257367.4:c.2327A>T XP_005257424.1:p.Asp776Val
XM_005257368.4:c.2234A>T XP_005257425.1:p.Asp745Val
XM_005257369.4:c.1460A>T XP_005257426.1:p.Asp487Val
XM_005257370.4:c.1373A>T XP_005257427.1:p.Asp458Val
XM_005257371.4:c.1286A>T XP_005257428.1:p.Asp429Val
NM_001203251.2:c.1082A>T NP_001190180.1:p.Asp361Val
NM_001377265.1:c.2438A>T MANE Select NP_001364194.1:p.Asp813Val
NM_001377266.1:c.2147A>T NP_001364195.1:p.Asp716Val
NM_001377267.1:c.772-1010A>T NP_001364196.1:n.772-1010A>T
NM_001377268.1:c.995A>T NP_001364197.1:p.Asp332Val
NM_016834.5:c.1088A>T NP_058518.1:p.Asp363Val
NM_016841.5:c.995A>T NP_058525.1:p.Asp332Val
NR_165166.1:n.1093A>T
NM_001123066.4:c.2267A>T NP_001116538.2:p.Asp756Val
NM_001123067.4:c.1175A>T NP_001116539.1:p.Asp392Val
NM_001203252.2:c.1169A>T NP_001190181.1:p.Asp390Val
NM_005910.6:c.1262A>T NP_005901.2:p.Asp421Val
NM_016835.5:c.2213A>T NP_058519.3:p.Asp738Val