Canonical Allele Identifier: CA225444
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 14245
dbSNP Id: rs63751273

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010389C>T , CM000679.2:g.46010389C>T GRCh38
NC_000017.10:g.44087755C>T , CM000679.1:g.44087755C>T GRCh37
NC_000017.9:g.41443592C>T NCBI36
NG_007398.1:g.120969C>T
NG_007398.2:g.120927C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262410.10:c.2078C>T MANE Select ENSP00000262410.6:p.Pro693Leu
ENST00000344290.10:c.1801-3854C>T ENSP00000340820.6:p.=
ENST00000351559.10:c.902C>T ENSP00000303214.7:p.Pro301Leu
ENST00000535772.6:c.736-3854C>T ENSP00000443028.2:p.=
ENST00000680542.1:c.815C>T ENSP00000505258.1:p.Pro272Leu
ENST00000680674.1:c.728C>T ENSP00000505478.1:p.Pro243Leu
ENST00000262410.9:c.1853C>T ENSP00000262410.5:p.Pro618Leu
ENST00000334239.12:c.649-3854C>T ENSP00000334886.8:p.=
ENST00000340799.9:c.815C>T ENSP00000340438.5:p.Pro272Leu
ENST00000344290.9:c.1907C>T ENSP00000340820.5:p.Pro636Leu
ENST00000351559.9:c.902C>T ENSP00000303214.7:p.Pro301Leu
ENST00000415613.6:n.1907C>T ENSP00000410838.2:p.Pro636Leu
ENST00000420682.6:n.815C>T ENSP00000413056.2:p.Pro272Leu
ENST00000431008.7:n.823-3854C>T ENSP00000389250.3:p.=
ENST00000446361.7:c.728C>T ENSP00000408975.3:p.Pro243Leu
ENST00000535772.5:c.823-3854C>T ENSP00000443028.1:p.=
ENST00000570299.5:n.777-8229C>T
ENST00000571987.5:n.1853C>T ENSP00000458742.1:p.Pro618Leu
ENST00000574436.5:n.902C>T ENSP00000460965.1:p.Pro301Leu
ENST00000576518.1:n.6108-3854C>T
NM_001123066.3:c.1907C>T NP_001116538.2:p.Pro636Leu
NM_001123067.3:c.815C>T NP_001116539.1:p.Pro272Leu
NM_001203251.1:c.736-3854C>T NP_001190180.1:p.=
NM_001203252.1:c.823-3854C>T NP_001190181.1:p.=
NM_005910.5:c.902C>T NP_005901.2:p.Pro301Leu
NM_016834.4:c.728C>T NP_058518.1:p.Pro243Leu
NM_016835.4:c.1853C>T NP_058519.3:p.Pro618Leu
NM_016841.4:c.649-3854C>T NP_058525.1:p.=
XM_005257362.3:c.2165C>T XP_005257419.1:p.Pro722Leu
XM_005257364.3:c.2078C>T XP_005257421.1:p.Pro693Leu
XM_005257365.3:c.2086-3854C>T XP_005257422.1:p.=
XM_005257366.2:c.1991C>T XP_005257423.1:p.Pro664Leu
XM_005257367.3:c.1967C>T XP_005257424.1:p.Pro656Leu
XM_005257368.3:c.1888-3854C>T XP_005257425.1:p.=
XM_005257369.3:c.1100C>T XP_005257426.1:p.Pro367Leu
XM_005257370.3:c.1013C>T XP_005257427.1:p.Pro338Leu
XM_005257371.3:c.926C>T XP_005257428.1:p.Pro309Leu
XM_005257362.4:c.2165C>T XP_005257419.1:p.Pro722Leu
XM_005257364.4:c.2078C>T XP_005257421.1:p.Pro693Leu
XM_005257365.4:c.2086-3854C>T XP_005257422.1:p.=
XM_005257366.3:c.1991C>T XP_005257423.1:p.Pro664Leu
XM_005257367.4:c.1967C>T XP_005257424.1:p.Pro656Leu
XM_005257368.4:c.1888-3854C>T XP_005257425.1:p.=
XM_005257369.4:c.1100C>T XP_005257426.1:p.Pro367Leu
XM_005257370.4:c.1013C>T XP_005257427.1:p.Pro338Leu
XM_005257371.4:c.926C>T XP_005257428.1:p.Pro309Leu
NM_001203251.2:c.736-3854C>T NP_001190180.1:p.=
NM_001377265.1:c.2078C>T MANE Select NP_001364194.1:p.Pro693Leu
NM_001377266.1:c.1801-3854C>T NP_001364195.1:p.=
NM_001377267.1:c.736-3854C>T NP_001364196.1:p.=
NM_001377268.1:c.649-3854C>T NP_001364197.1:p.=
NM_016834.5:c.728C>T NP_058518.1:p.Pro243Leu
NM_016841.5:c.649-3854C>T NP_058525.1:p.=
NR_165166.1:n.747-3854C>T
NM_001123066.4:c.1907C>T NP_001116538.2:p.Pro636Leu
NM_001123067.4:c.815C>T NP_001116539.1:p.Pro272Leu
NM_001203252.2:c.823-3854C>T NP_001190181.1:p.=
NM_005910.6:c.902C>T NP_005901.2:p.Pro301Leu
NM_016835.5:c.1853C>T NP_058519.3:p.Pro618Leu