Canonical Allele Identifier: CA225475
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 14262
dbSNP Id: rs63750635

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014286C>T , CM000679.2:g.46014286C>T GRCh38
NC_000017.10:g.44091652C>T , CM000679.1:g.44091652C>T GRCh37
NC_000017.9:g.41447489C>T NCBI36
NG_007398.1:g.124866C>T
NG_007398.2:g.124824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.872C>T ENSP00000413056.2:p.Ser291Phe
ENST00000703922.1:c.872C>T ENSP00000515557.1:p.Ser291Phe
ENST00000703923.1:c.785C>T ENSP00000515558.1:p.Ser262Phe
ENST00000703924.1:c.872C>T ENSP00000515559.1:p.Ser291Phe
ENST00000703978.1:c.959C>T ENSP00000515600.1:p.Ser320Phe
ENST00000703979.1:n.730C>T
ENST00000703980.1:n.185C>T
ENST00000703981.1:n.128C>T
ENST00000262410.10:c.2135C>T MANE Select ENSP00000262410.6:p.Ser712Phe
ENST00000344290.10:c.1844C>T ENSP00000340820.6:p.Ser615Phe
ENST00000351559.10:c.959C>T ENSP00000303214.7:p.Ser320Phe
ENST00000535772.6:c.779C>T ENSP00000443028.2:p.Ser260Phe
ENST00000680542.1:c.872C>T ENSP00000505258.1:p.Ser291Phe
ENST00000680674.1:c.785C>T ENSP00000505478.1:p.Ser262Phe
ENST00000262410.9:c.1910C>T ENSP00000262410.5:p.Ser637Phe
ENST00000334239.12:c.692C>T ENSP00000334886.8:p.Ser231Phe
ENST00000340799.9:c.872C>T ENSP00000340438.5:p.Ser291Phe
ENST00000344290.9:c.1964C>T ENSP00000340820.5:p.Ser655Phe
ENST00000351559.9:c.959C>T ENSP00000303214.7:p.Ser320Phe
ENST00000415613.6:c.1964C>T ENSP00000410838.2:p.Ser655Phe
ENST00000420682.6:c.872C>T ENSP00000413056.2:p.Ser291Phe
ENST00000431008.7:c.866C>T ENSP00000389250.3:p.Ser289Phe
ENST00000446361.7:c.785C>T ENSP00000408975.3:p.Ser262Phe
ENST00000535772.5:c.866C>T ENSP00000443028.1:p.Ser289Phe
ENST00000570299.5:n.777-4332C>T
ENST00000571987.5:c.1910C>T ENSP00000458742.1:p.Ser637Phe
ENST00000574436.5:c.959C>T ENSP00000460965.1:p.Ser320Phe
ENST00000576518.1:n.6151C>T
NM_001123066.3:c.1964C>T NP_001116538.2:p.Ser655Phe
NM_001123067.3:c.872C>T NP_001116539.1:p.Ser291Phe
NM_001203251.1:c.779C>T NP_001190180.1:p.Ser260Phe
NM_001203252.1:c.866C>T NP_001190181.1:p.Ser289Phe
NM_005910.5:c.959C>T NP_005901.2:p.Ser320Phe
NM_016834.4:c.785C>T NP_058518.1:p.Ser262Phe
NM_016835.4:c.1910C>T NP_058519.3:p.Ser637Phe
NM_016841.4:c.692C>T NP_058525.1:p.Ser231Phe
XM_005257362.3:c.2222C>T XP_005257419.1:p.Ser741Phe
XM_005257364.3:c.2135C>T XP_005257421.1:p.Ser712Phe
XM_005257365.3:c.2129C>T XP_005257422.1:p.Ser710Phe
XM_005257366.2:c.2048C>T XP_005257423.1:p.Ser683Phe
XM_005257367.3:c.2024C>T XP_005257424.1:p.Ser675Phe
XM_005257368.3:c.1931C>T XP_005257425.1:p.Ser644Phe
XM_005257369.3:c.1157C>T XP_005257426.1:p.Ser386Phe
XM_005257370.3:c.1070C>T XP_005257427.1:p.Ser357Phe
XM_005257371.3:c.983C>T XP_005257428.1:p.Ser328Phe
XM_005257362.4:c.2222C>T XP_005257419.1:p.Ser741Phe
XM_005257364.4:c.2135C>T XP_005257421.1:p.Ser712Phe
XM_005257365.4:c.2129C>T XP_005257422.1:p.Ser710Phe
XM_005257366.3:c.2048C>T XP_005257423.1:p.Ser683Phe
XM_005257367.4:c.2024C>T XP_005257424.1:p.Ser675Phe
XM_005257368.4:c.1931C>T XP_005257425.1:p.Ser644Phe
XM_005257369.4:c.1157C>T XP_005257426.1:p.Ser386Phe
XM_005257370.4:c.1070C>T XP_005257427.1:p.Ser357Phe
XM_005257371.4:c.983C>T XP_005257428.1:p.Ser328Phe
NM_001203251.2:c.779C>T NP_001190180.1:p.Ser260Phe
NM_001377265.1:c.2135C>T MANE Select NP_001364194.1:p.Ser712Phe
NM_001377266.1:c.1844C>T NP_001364195.1:p.Ser615Phe
NM_001377267.1:c.771+8C>T NP_001364196.1:n.771+8C>T
NM_001377268.1:c.692C>T NP_001364197.1:p.Ser231Phe
NM_016834.5:c.785C>T NP_058518.1:p.Ser262Phe
NM_016841.5:c.692C>T NP_058525.1:p.Ser231Phe
NR_165166.1:n.790C>T
NM_001123066.4:c.1964C>T NP_001116538.2:p.Ser655Phe
NM_001123067.4:c.872C>T NP_001116539.1:p.Ser291Phe
NM_001203252.2:c.866C>T NP_001190181.1:p.Ser289Phe
NM_005910.6:c.959C>T NP_005901.2:p.Ser320Phe
NM_016835.5:c.1910C>T NP_058519.3:p.Ser637Phe