Canonical Allele Identifier: CA399983582
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014316A>T , CM000679.2:g.46014316A>T GRCh38
NC_000017.10:g.44091682A>T , CM000679.1:g.44091682A>T GRCh37
NC_000017.9:g.41447519A>T NCBI36
NG_007398.1:g.124896A>T
NG_007398.2:g.124854A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.902A>T ENSP00000413056.2:p.His301Leu
ENST00000703922.1:c.902A>T ENSP00000515557.1:p.His301Leu
ENST00000703923.1:c.815A>T ENSP00000515558.1:p.His272Leu
ENST00000703924.1:c.902A>T ENSP00000515559.1:p.His301Leu
ENST00000703978.1:c.989A>T ENSP00000515600.1:p.His330Leu
ENST00000703979.1:n.760A>T
ENST00000703980.1:n.215A>T
ENST00000703981.1:n.158A>T
ENST00000262410.10:c.2165A>T MANE Select ENSP00000262410.6:p.His722Leu
ENST00000344290.10:c.1874A>T ENSP00000340820.6:p.His625Leu
ENST00000351559.10:c.989A>T ENSP00000303214.7:p.His330Leu
ENST00000535772.6:c.809A>T ENSP00000443028.2:p.His270Leu
ENST00000680542.1:c.902A>T ENSP00000505258.1:p.His301Leu
ENST00000680674.1:c.815A>T ENSP00000505478.1:p.His272Leu
ENST00000262410.9:c.1940A>T ENSP00000262410.5:p.His647Leu
ENST00000334239.12:c.722A>T ENSP00000334886.8:p.His241Leu
ENST00000340799.9:c.902A>T ENSP00000340438.5:p.His301Leu
ENST00000344290.9:c.1994A>T ENSP00000340820.5:p.His665Leu
ENST00000351559.9:c.989A>T ENSP00000303214.7:p.His330Leu
ENST00000415613.6:c.1994A>T ENSP00000410838.2:p.His665Leu
ENST00000420682.6:c.902A>T ENSP00000413056.2:p.His301Leu
ENST00000431008.7:c.896A>T ENSP00000389250.3:p.His299Leu
ENST00000446361.7:c.815A>T ENSP00000408975.3:p.His272Leu
ENST00000535772.5:c.896A>T ENSP00000443028.1:p.His299Leu
ENST00000570299.5:n.777-4302A>T
ENST00000571987.5:c.1940A>T ENSP00000458742.1:p.His647Leu
ENST00000574436.5:c.989A>T ENSP00000460965.1:p.His330Leu
ENST00000576518.1:n.6181A>T
NM_001123066.3:c.1994A>T NP_001116538.2:p.His665Leu
NM_001123067.3:c.902A>T NP_001116539.1:p.His301Leu
NM_001203251.1:c.809A>T NP_001190180.1:p.His270Leu
NM_001203252.1:c.896A>T NP_001190181.1:p.His299Leu
NM_005910.5:c.989A>T NP_005901.2:p.His330Leu
NM_016834.4:c.815A>T NP_058518.1:p.His272Leu
NM_016835.4:c.1940A>T NP_058519.3:p.His647Leu
NM_016841.4:c.722A>T NP_058525.1:p.His241Leu
XM_005257362.3:c.2252A>T XP_005257419.1:p.His751Leu
XM_005257364.3:c.2165A>T XP_005257421.1:p.His722Leu
XM_005257365.3:c.2159A>T XP_005257422.1:p.His720Leu
XM_005257366.2:c.2078A>T XP_005257423.1:p.His693Leu
XM_005257367.3:c.2054A>T XP_005257424.1:p.His685Leu
XM_005257368.3:c.1961A>T XP_005257425.1:p.His654Leu
XM_005257369.3:c.1187A>T XP_005257426.1:p.His396Leu
XM_005257370.3:c.1100A>T XP_005257427.1:p.His367Leu
XM_005257371.3:c.1013A>T XP_005257428.1:p.His338Leu
XM_005257362.4:c.2252A>T XP_005257419.1:p.His751Leu
XM_005257364.4:c.2165A>T XP_005257421.1:p.His722Leu
XM_005257365.4:c.2159A>T XP_005257422.1:p.His720Leu
XM_005257366.3:c.2078A>T XP_005257423.1:p.His693Leu
XM_005257367.4:c.2054A>T XP_005257424.1:p.His685Leu
XM_005257368.4:c.1961A>T XP_005257425.1:p.His654Leu
XM_005257369.4:c.1187A>T XP_005257426.1:p.His396Leu
XM_005257370.4:c.1100A>T XP_005257427.1:p.His367Leu
XM_005257371.4:c.1013A>T XP_005257428.1:p.His338Leu
NM_001203251.2:c.809A>T NP_001190180.1:p.His270Leu
NM_001377265.1:c.2165A>T MANE Select NP_001364194.1:p.His722Leu
NM_001377266.1:c.1874A>T NP_001364195.1:p.His625Leu
NM_001377267.1:c.771+38A>T NP_001364196.1:n.771+38A>T
NM_001377268.1:c.722A>T NP_001364197.1:p.His241Leu
NM_016834.5:c.815A>T NP_058518.1:p.His272Leu
NM_016841.5:c.722A>T NP_058525.1:p.His241Leu
NR_165166.1:n.820A>T
NM_001123066.4:c.1994A>T NP_001116538.2:p.His665Leu
NM_001123067.4:c.902A>T NP_001116539.1:p.His301Leu
NM_001203252.2:c.896A>T NP_001190181.1:p.His299Leu
NM_005910.6:c.989A>T NP_005901.2:p.His330Leu
NM_016835.5:c.1940A>T NP_058519.3:p.His647Leu