Canonical Allele Identifier: CA225417
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 14266
dbSNP Id: rs63750349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45996638C>G , CM000679.2:g.45996638C>G GRCh38
NC_000017.10:g.44074004C>G , CM000679.1:g.44074004C>G GRCh37
NC_000017.9:g.41429841C>G NCBI36
NG_007398.1:g.107218C>G
NG_007398.2:g.107176C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.709C>G ENSP00000413056.2:p.Leu237Val
ENST00000703922.1:c.709C>G ENSP00000515557.1:p.Leu237Val
ENST00000703923.1:c.622C>G ENSP00000515558.1:p.Leu208Val
ENST00000703924.1:c.709C>G ENSP00000515559.1:p.Leu237Val
ENST00000703978.1:c.796C>G ENSP00000515600.1:p.Leu266Val
ENST00000703979.1:n.660C>G
ENST00000703980.1:n.28C>G
ENST00000262410.10:c.1972C>G MANE Select ENSP00000262410.6:p.Leu658Val
ENST00000344290.10:c.1774C>G ENSP00000340820.6:p.Leu592Val
ENST00000351559.10:c.796C>G ENSP00000303214.7:p.Leu266Val
ENST00000535772.6:c.709C>G ENSP00000443028.2:p.Leu237Val
ENST00000680542.1:c.709C>G ENSP00000505258.1:p.Leu237Val
ENST00000680674.1:c.622C>G ENSP00000505478.1:p.Leu208Val
ENST00000262410.9:c.1747C>G ENSP00000262410.5:p.Leu583Val
ENST00000334239.12:c.622C>G ENSP00000334886.8:p.Leu208Val
ENST00000340799.9:c.709C>G ENSP00000340438.5:p.Leu237Val
ENST00000344290.9:c.1801C>G ENSP00000340820.5:p.Leu601Val
ENST00000351559.9:c.796C>G ENSP00000303214.7:p.Leu266Val
ENST00000415613.6:c.1801C>G ENSP00000410838.2:p.Leu601Val
ENST00000420682.6:c.709C>G ENSP00000413056.2:p.Leu237Val
ENST00000431008.7:c.796C>G ENSP00000389250.3:p.Leu266Val
ENST00000446361.7:c.622C>G ENSP00000408975.3:p.Leu208Val
ENST00000535772.5:c.796C>G ENSP00000443028.1:p.Leu266Val
ENST00000570299.5:n.750C>G
ENST00000571987.5:c.1747C>G ENSP00000458742.1:p.Leu583Val
ENST00000574436.5:c.796C>G ENSP00000460965.1:p.Leu266Val
ENST00000576518.1:n.6081C>G
NM_001123066.3:c.1801C>G NP_001116538.2:p.Leu601Val
NM_001123067.3:c.709C>G NP_001116539.1:p.Leu237Val
NM_001203251.1:c.709C>G NP_001190180.1:p.Leu237Val
NM_001203252.1:c.796C>G NP_001190181.1:p.Leu266Val
NM_005910.5:c.796C>G NP_005901.2:p.Leu266Val
NM_016834.4:c.622C>G NP_058518.1:p.Leu208Val
NM_016835.4:c.1747C>G NP_058519.3:p.Leu583Val
NM_016841.4:c.622C>G NP_058525.1:p.Leu208Val
XM_005257362.3:c.2059C>G XP_005257419.1:p.Leu687Val
XM_005257364.3:c.1972C>G XP_005257421.1:p.Leu658Val
XM_005257365.3:c.2059C>G XP_005257422.1:p.Leu687Val
XM_005257366.2:c.1885C>G XP_005257423.1:p.Leu629Val
XM_005257367.3:c.1861C>G XP_005257424.1:p.Leu621Val
XM_005257368.3:c.1861C>G XP_005257425.1:p.Leu621Val
XM_005257369.3:c.994C>G XP_005257426.1:p.Leu332Val
XM_005257370.3:c.907C>G XP_005257427.1:p.Leu303Val
XM_005257371.3:c.820C>G XP_005257428.1:p.Leu274Val
XM_005257362.4:c.2059C>G XP_005257419.1:p.Leu687Val
XM_005257364.4:c.1972C>G XP_005257421.1:p.Leu658Val
XM_005257365.4:c.2059C>G XP_005257422.1:p.Leu687Val
XM_005257366.3:c.1885C>G XP_005257423.1:p.Leu629Val
XM_005257367.4:c.1861C>G XP_005257424.1:p.Leu621Val
XM_005257368.4:c.1861C>G XP_005257425.1:p.Leu621Val
XM_005257369.4:c.994C>G XP_005257426.1:p.Leu332Val
XM_005257370.4:c.907C>G XP_005257427.1:p.Leu303Val
XM_005257371.4:c.820C>G XP_005257428.1:p.Leu274Val
NM_001203251.2:c.709C>G NP_001190180.1:p.Leu237Val
NM_001377265.1:c.1972C>G MANE Select NP_001364194.1:p.Leu658Val
NM_001377266.1:c.1774C>G NP_001364195.1:p.Leu592Val
NM_001377267.1:c.709C>G NP_001364196.1:p.Leu237Val
NM_001377268.1:c.622C>G NP_001364197.1:p.Leu208Val
NM_016834.5:c.622C>G NP_058518.1:p.Leu208Val
NM_016841.5:c.622C>G NP_058525.1:p.Leu208Val
NR_165166.1:n.720C>G
NM_001123066.4:c.1801C>G NP_001116538.2:p.Leu601Val
NM_001123067.4:c.709C>G NP_001116539.1:p.Leu237Val
NM_001203252.2:c.796C>G NP_001190181.1:p.Leu266Val
NM_005910.6:c.796C>G NP_005901.2:p.Leu266Val
NM_016835.5:c.1747C>G NP_058519.3:p.Leu583Val