Canonical Allele Identifier: CA399983522
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014291T>C , CM000679.2:g.46014291T>C GRCh38
NC_000017.10:g.44091657T>C , CM000679.1:g.44091657T>C GRCh37
NC_000017.9:g.41447494T>C NCBI36
NG_007398.1:g.124871T>C
NG_007398.2:g.124829T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.877T>C ENSP00000413056.2:p.Cys293Arg
ENST00000703922.1:c.877T>C ENSP00000515557.1:p.Cys293Arg
ENST00000703923.1:c.790T>C ENSP00000515558.1:p.Cys264Arg
ENST00000703924.1:c.877T>C ENSP00000515559.1:p.Cys293Arg
ENST00000703978.1:c.964T>C ENSP00000515600.1:p.Cys322Arg
ENST00000703979.1:n.735T>C
ENST00000703980.1:n.190T>C
ENST00000703981.1:n.133T>C
ENST00000262410.10:c.2140T>C MANE Select ENSP00000262410.6:p.Cys714Arg
ENST00000344290.10:c.1849T>C ENSP00000340820.6:p.Cys617Arg
ENST00000351559.10:c.964T>C ENSP00000303214.7:p.Cys322Arg
ENST00000535772.6:c.784T>C ENSP00000443028.2:p.Cys262Arg
ENST00000680542.1:c.877T>C ENSP00000505258.1:p.Cys293Arg
ENST00000680674.1:c.790T>C ENSP00000505478.1:p.Cys264Arg
ENST00000262410.9:c.1915T>C ENSP00000262410.5:p.Cys639Arg
ENST00000334239.12:c.697T>C ENSP00000334886.8:p.Cys233Arg
ENST00000340799.9:c.877T>C ENSP00000340438.5:p.Cys293Arg
ENST00000344290.9:c.1969T>C ENSP00000340820.5:p.Cys657Arg
ENST00000351559.9:c.964T>C ENSP00000303214.7:p.Cys322Arg
ENST00000415613.6:c.1969T>C ENSP00000410838.2:p.Cys657Arg
ENST00000420682.6:c.877T>C ENSP00000413056.2:p.Cys293Arg
ENST00000431008.7:c.871T>C ENSP00000389250.3:p.Cys291Arg
ENST00000446361.7:c.790T>C ENSP00000408975.3:p.Cys264Arg
ENST00000535772.5:c.871T>C ENSP00000443028.1:p.Cys291Arg
ENST00000570299.5:n.777-4327T>C
ENST00000571987.5:c.1915T>C ENSP00000458742.1:p.Cys639Arg
ENST00000574436.5:c.964T>C ENSP00000460965.1:p.Cys322Arg
ENST00000576518.1:n.6156T>C
NM_001123066.3:c.1969T>C NP_001116538.2:p.Cys657Arg
NM_001123067.3:c.877T>C NP_001116539.1:p.Cys293Arg
NM_001203251.1:c.784T>C NP_001190180.1:p.Cys262Arg
NM_001203252.1:c.871T>C NP_001190181.1:p.Cys291Arg
NM_005910.5:c.964T>C NP_005901.2:p.Cys322Arg
NM_016834.4:c.790T>C NP_058518.1:p.Cys264Arg
NM_016835.4:c.1915T>C NP_058519.3:p.Cys639Arg
NM_016841.4:c.697T>C NP_058525.1:p.Cys233Arg
XM_005257362.3:c.2227T>C XP_005257419.1:p.Cys743Arg
XM_005257364.3:c.2140T>C XP_005257421.1:p.Cys714Arg
XM_005257365.3:c.2134T>C XP_005257422.1:p.Cys712Arg
XM_005257366.2:c.2053T>C XP_005257423.1:p.Cys685Arg
XM_005257367.3:c.2029T>C XP_005257424.1:p.Cys677Arg
XM_005257368.3:c.1936T>C XP_005257425.1:p.Cys646Arg
XM_005257369.3:c.1162T>C XP_005257426.1:p.Cys388Arg
XM_005257370.3:c.1075T>C XP_005257427.1:p.Cys359Arg
XM_005257371.3:c.988T>C XP_005257428.1:p.Cys330Arg
XM_005257362.4:c.2227T>C XP_005257419.1:p.Cys743Arg
XM_005257364.4:c.2140T>C XP_005257421.1:p.Cys714Arg
XM_005257365.4:c.2134T>C XP_005257422.1:p.Cys712Arg
XM_005257366.3:c.2053T>C XP_005257423.1:p.Cys685Arg
XM_005257367.4:c.2029T>C XP_005257424.1:p.Cys677Arg
XM_005257368.4:c.1936T>C XP_005257425.1:p.Cys646Arg
XM_005257369.4:c.1162T>C XP_005257426.1:p.Cys388Arg
XM_005257370.4:c.1075T>C XP_005257427.1:p.Cys359Arg
XM_005257371.4:c.988T>C XP_005257428.1:p.Cys330Arg
NM_001203251.2:c.784T>C NP_001190180.1:p.Cys262Arg
NM_001377265.1:c.2140T>C MANE Select NP_001364194.1:p.Cys714Arg
NM_001377266.1:c.1849T>C NP_001364195.1:p.Cys617Arg
NM_001377267.1:c.771+13T>C NP_001364196.1:n.771+13T>C
NM_001377268.1:c.697T>C NP_001364197.1:p.Cys233Arg
NM_016834.5:c.790T>C NP_058518.1:p.Cys264Arg
NM_016841.5:c.697T>C NP_058525.1:p.Cys233Arg
NR_165166.1:n.795T>C
NM_001123066.4:c.1969T>C NP_001116538.2:p.Cys657Arg
NM_001123067.4:c.877T>C NP_001116539.1:p.Cys293Arg
NM_001203252.2:c.871T>C NP_001190181.1:p.Cys291Arg
NM_005910.6:c.964T>C NP_005901.2:p.Cys322Arg
NM_016835.5:c.1915T>C NP_058519.3:p.Cys639Arg