Canonical Allele Identifier: CA225485
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 14258
dbSNP Id: rs63750711

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46018645A>T , CM000679.2:g.46018645A>T GRCh38
NC_000017.10:g.44096011A>T , CM000679.1:g.44096011A>T GRCh37
NC_000017.9:g.41451858A>T NCBI36
NG_007398.1:g.129235A>T
NG_007398.2:g.129183A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262410.10:c.2201A>T MANE Select ENSP00000262410.6:p.Glu734Val
ENST00000344290.10:c.1910A>T ENSP00000340820.6:p.Glu637Val
ENST00000351559.10:c.1025A>T ENSP00000303214.7:p.Glu342Val
ENST00000535772.6:c.845A>T ENSP00000443028.2:p.Glu282Val
ENST00000680542.1:c.938A>T ENSP00000505258.1:p.Glu313Val
ENST00000680674.1:c.974A>T ENSP00000505478.1:p.Glu325Val
ENST00000262410.9:c.1976A>T ENSP00000262410.5:p.Glu659Val
ENST00000334239.12:c.758A>T ENSP00000334886.8:p.Glu253Val
ENST00000340799.9:c.938A>T ENSP00000340438.5:p.Glu313Val
ENST00000344290.9:c.2030A>T ENSP00000340820.5:p.Glu677Val
ENST00000351559.9:c.1025A>T ENSP00000303214.7:p.Glu342Val
ENST00000415613.6:n.2030A>T ENSP00000410838.2:p.Glu677Val
ENST00000420682.6:n.938A>T ENSP00000413056.2:p.Glu313Val
ENST00000431008.7:n.932A>T ENSP00000389250.3:p.Glu311Val
ENST00000446361.7:c.851A>T ENSP00000408975.3:p.Glu284Val
ENST00000535772.5:c.932A>T ENSP00000443028.1:p.Glu311Val
ENST00000570299.5:n.804A>T
ENST00000571987.5:n.1976A>T ENSP00000458742.1:p.Glu659Val
ENST00000574436.5:n.1025A>T ENSP00000460965.1:p.Glu342Val
ENST00000576518.1:n.6217A>T
NM_001123066.3:c.2030A>T NP_001116538.2:p.Glu677Val
NM_001123067.3:c.938A>T NP_001116539.1:p.Glu313Val
NM_001203251.1:c.845A>T NP_001190180.1:p.Glu282Val
NM_001203252.1:c.932A>T NP_001190181.1:p.Glu311Val
NM_005910.5:c.1025A>T NP_005901.2:p.Glu342Val
NM_016834.4:c.851A>T NP_058518.1:p.Glu284Val
NM_016835.4:c.1976A>T NP_058519.3:p.Glu659Val
NM_016841.4:c.758A>T NP_058525.1:p.Glu253Val
XM_005257362.3:c.2288A>T XP_005257419.1:p.Glu763Val
XM_005257364.3:c.2201A>T XP_005257421.1:p.Glu734Val
XM_005257365.3:c.2195A>T XP_005257422.1:p.Glu732Val
XM_005257366.2:c.2114A>T XP_005257423.1:p.Glu705Val
XM_005257367.3:c.2090A>T XP_005257424.1:p.Glu697Val
XM_005257368.3:c.1997A>T XP_005257425.1:p.Glu666Val
XM_005257369.3:c.1223A>T XP_005257426.1:p.Glu408Val
XM_005257370.3:c.1136A>T XP_005257427.1:p.Glu379Val
XM_005257371.3:c.1049A>T XP_005257428.1:p.Glu350Val
XM_005257362.4:c.2288A>T XP_005257419.1:p.Glu763Val
XM_005257364.4:c.2201A>T XP_005257421.1:p.Glu734Val
XM_005257365.4:c.2195A>T XP_005257422.1:p.Glu732Val
XM_005257366.3:c.2114A>T XP_005257423.1:p.Glu705Val
XM_005257367.4:c.2090A>T XP_005257424.1:p.Glu697Val
XM_005257368.4:c.1997A>T XP_005257425.1:p.Glu666Val
XM_005257369.4:c.1223A>T XP_005257426.1:p.Glu408Val
XM_005257370.4:c.1136A>T XP_005257427.1:p.Glu379Val
XM_005257371.4:c.1049A>T XP_005257428.1:p.Glu350Val
NM_001203251.2:c.845A>T NP_001190180.1:p.Glu282Val
NM_001377265.1:c.2201A>T MANE Select NP_001364194.1:p.Glu734Val
NM_001377266.1:c.1910A>T NP_001364195.1:p.Glu637Val
NM_001377267.1:c.771+4367A>T NP_001364196.1:p.=
NM_001377268.1:c.758A>T NP_001364197.1:p.Glu253Val
NM_016834.5:c.851A>T NP_058518.1:p.Glu284Val
NM_016841.5:c.758A>T NP_058525.1:p.Glu253Val
NR_165166.1:n.856A>T
NM_001123066.4:c.2030A>T NP_001116538.2:p.Glu677Val
NM_001123067.4:c.938A>T NP_001116539.1:p.Glu313Val
NM_001203252.2:c.932A>T NP_001190181.1:p.Glu311Val
NM_005910.6:c.1025A>T NP_005901.2:p.Glu342Val
NM_016835.5:c.1976A>T NP_058519.3:p.Glu659Val