Canonical Allele Identifier: CA399983466
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014264G>T , CM000679.2:g.46014264G>T GRCh38
NC_000017.10:g.44091630G>T , CM000679.1:g.44091630G>T GRCh37
NC_000017.9:g.41447467G>T NCBI36
NG_007398.1:g.124844G>T
NG_007398.2:g.124802G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.850G>T ENSP00000413056.2:p.Val284Phe
ENST00000703922.1:c.850G>T ENSP00000515557.1:p.Val284Phe
ENST00000703923.1:c.763G>T ENSP00000515558.1:p.Val255Phe
ENST00000703924.1:c.850G>T ENSP00000515559.1:p.Val284Phe
ENST00000703978.1:c.937G>T ENSP00000515600.1:p.Val313Phe
ENST00000703979.1:n.708G>T
ENST00000703980.1:n.163G>T
ENST00000703981.1:n.106G>T
ENST00000262410.10:c.2113G>T MANE Select ENSP00000262410.6:p.Val705Phe
ENST00000344290.10:c.1822G>T ENSP00000340820.6:p.Val608Phe
ENST00000351559.10:c.937G>T ENSP00000303214.7:p.Val313Phe
ENST00000535772.6:c.757G>T ENSP00000443028.2:p.Val253Phe
ENST00000680542.1:c.850G>T ENSP00000505258.1:p.Val284Phe
ENST00000680674.1:c.763G>T ENSP00000505478.1:p.Val255Phe
ENST00000262410.9:c.1888G>T ENSP00000262410.5:p.Val630Phe
ENST00000334239.12:c.670G>T ENSP00000334886.8:p.Val224Phe
ENST00000340799.9:c.850G>T ENSP00000340438.5:p.Val284Phe
ENST00000344290.9:c.1942G>T ENSP00000340820.5:p.Val648Phe
ENST00000351559.9:c.937G>T ENSP00000303214.7:p.Val313Phe
ENST00000415613.6:c.1942G>T ENSP00000410838.2:p.Val648Phe
ENST00000420682.6:c.850G>T ENSP00000413056.2:p.Val284Phe
ENST00000431008.7:c.844G>T ENSP00000389250.3:p.Val282Phe
ENST00000446361.7:c.763G>T ENSP00000408975.3:p.Val255Phe
ENST00000535772.5:c.844G>T ENSP00000443028.1:p.Val282Phe
ENST00000570299.5:n.777-4354G>T
ENST00000571987.5:c.1888G>T ENSP00000458742.1:p.Val630Phe
ENST00000574436.5:c.937G>T ENSP00000460965.1:p.Val313Phe
ENST00000576518.1:n.6129G>T
NM_001123066.3:c.1942G>T NP_001116538.2:p.Val648Phe
NM_001123067.3:c.850G>T NP_001116539.1:p.Val284Phe
NM_001203251.1:c.757G>T NP_001190180.1:p.Val253Phe
NM_001203252.1:c.844G>T NP_001190181.1:p.Val282Phe
NM_005910.5:c.937G>T NP_005901.2:p.Val313Phe
NM_016834.4:c.763G>T NP_058518.1:p.Val255Phe
NM_016835.4:c.1888G>T NP_058519.3:p.Val630Phe
NM_016841.4:c.670G>T NP_058525.1:p.Val224Phe
XM_005257362.3:c.2200G>T XP_005257419.1:p.Val734Phe
XM_005257364.3:c.2113G>T XP_005257421.1:p.Val705Phe
XM_005257365.3:c.2107G>T XP_005257422.1:p.Val703Phe
XM_005257366.2:c.2026G>T XP_005257423.1:p.Val676Phe
XM_005257367.3:c.2002G>T XP_005257424.1:p.Val668Phe
XM_005257368.3:c.1909G>T XP_005257425.1:p.Val637Phe
XM_005257369.3:c.1135G>T XP_005257426.1:p.Val379Phe
XM_005257370.3:c.1048G>T XP_005257427.1:p.Val350Phe
XM_005257371.3:c.961G>T XP_005257428.1:p.Val321Phe
XM_005257362.4:c.2200G>T XP_005257419.1:p.Val734Phe
XM_005257364.4:c.2113G>T XP_005257421.1:p.Val705Phe
XM_005257365.4:c.2107G>T XP_005257422.1:p.Val703Phe
XM_005257366.3:c.2026G>T XP_005257423.1:p.Val676Phe
XM_005257367.4:c.2002G>T XP_005257424.1:p.Val668Phe
XM_005257368.4:c.1909G>T XP_005257425.1:p.Val637Phe
XM_005257369.4:c.1135G>T XP_005257426.1:p.Val379Phe
XM_005257370.4:c.1048G>T XP_005257427.1:p.Val350Phe
XM_005257371.4:c.961G>T XP_005257428.1:p.Val321Phe
NM_001203251.2:c.757G>T NP_001190180.1:p.Val253Phe
NM_001377265.1:c.2113G>T MANE Select NP_001364194.1:p.Val705Phe
NM_001377266.1:c.1822G>T NP_001364195.1:p.Val608Phe
NM_001377267.1:c.757G>T NP_001364196.1:p.Val253Phe
NM_001377268.1:c.670G>T NP_001364197.1:p.Val224Phe
NM_016834.5:c.763G>T NP_058518.1:p.Val255Phe
NM_016841.5:c.670G>T NP_058525.1:p.Val224Phe
NR_165166.1:n.768G>T
NM_001123066.4:c.1942G>T NP_001116538.2:p.Val648Phe
NM_001123067.4:c.850G>T NP_001116539.1:p.Val284Phe
NM_001203252.2:c.844G>T NP_001190181.1:p.Val282Phe
NM_005910.6:c.937G>T NP_005901.2:p.Val313Phe
NM_016835.5:c.1888G>T NP_058519.3:p.Val630Phe