Canonical Allele Identifier: CA500371503
Gene: MAPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.44101471A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46024105A>T , CM000679.2:g.46024105A>T GRCh38
NC_000017.10:g.44101471A>T , CM000679.1:g.44101471A>T GRCh37
NC_000017.9:g.41457316A>T NCBI36
NG_007398.1:g.134693A>T
NG_007398.2:g.134643A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.1173A>T ENSP00000413056.2:p.Val391=
ENST00000703922.1:c.1173A>T ENSP00000515557.1:p.Val391=
ENST00000703923.1:c.1086A>T ENSP00000515558.1:p.Val362=
ENST00000703924.1:c.1173A>T ENSP00000515559.1:p.Val391=
ENST00000703978.1:c.1260A>T ENSP00000515600.1:p.Val420=
ENST00000703980.1:n.486A>T
ENST00000703981.1:n.444A>T
ENST00000703982.1:n.678A>T
ENST00000262410.10:c.2436A>T MANE Select ENSP00000262410.6:p.Val812=
ENST00000344290.10:c.2145A>T ENSP00000340820.6:p.Val715=
ENST00000351559.10:c.1260A>T ENSP00000303214.7:p.Val420=
ENST00000535772.6:c.1080A>T ENSP00000443028.2:p.Val360=
ENST00000680542.1:c.1173A>T ENSP00000505258.1:p.Val391=
ENST00000680674.1:c.1209A>T ENSP00000505478.1:p.Val403=
ENST00000262410.9:c.2211A>T ENSP00000262410.5:p.Val737=
ENST00000334239.12:c.993A>T ENSP00000334886.8:p.Val331=
ENST00000340799.9:c.1173A>T ENSP00000340438.5:p.Val391=
ENST00000344290.9:c.2265A>T ENSP00000340820.5:p.Val755=
ENST00000351559.9:c.1260A>T ENSP00000303214.7:p.Val420=
ENST00000415613.6:c.2265A>T ENSP00000410838.2:p.Val755=
ENST00000420682.6:c.1173A>T ENSP00000413056.2:p.Val391=
ENST00000431008.7:c.1167A>T ENSP00000389250.3:p.Val389=
ENST00000446361.7:c.1086A>T ENSP00000408975.3:p.Val362=
ENST00000535772.5:c.1167A>T ENSP00000443028.1:p.Val389=
ENST00000571987.5:c.2211A>T ENSP00000458742.1:p.Val737=
ENST00000574436.5:c.1260A>T ENSP00000460965.1:p.Val420=
ENST00000576518.1:n.6452A>T
NM_001123066.3:c.2265A>T NP_001116538.2:p.Val755=
NM_001123067.3:c.1173A>T NP_001116539.1:p.Val391=
NM_001203251.1:c.1080A>T NP_001190180.1:p.Val360=
NM_001203252.1:c.1167A>T NP_001190181.1:p.Val389=
NM_005910.5:c.1260A>T NP_005901.2:p.Val420=
NM_016834.4:c.1086A>T NP_058518.1:p.Val362=
NM_016835.4:c.2211A>T NP_058519.3:p.Val737=
NM_016841.4:c.993A>T NP_058525.1:p.Val331=
XM_005257362.3:c.2523A>T XP_005257419.1:p.Val841=
XM_005257364.3:c.2436A>T XP_005257421.1:p.Val812=
XM_005257365.3:c.2430A>T XP_005257422.1:p.Val810=
XM_005257366.2:c.2349A>T XP_005257423.1:p.Val783=
XM_005257367.3:c.2325A>T XP_005257424.1:p.Val775=
XM_005257368.3:c.2232A>T XP_005257425.1:p.Val744=
XM_005257369.3:c.1458A>T XP_005257426.1:p.Val486=
XM_005257370.3:c.1371A>T XP_005257427.1:p.Val457=
XM_005257371.3:c.1284A>T XP_005257428.1:p.Val428=
XM_005257362.4:c.2523A>T XP_005257419.1:p.Val841=
XM_005257364.4:c.2436A>T XP_005257421.1:p.Val812=
XM_005257365.4:c.2430A>T XP_005257422.1:p.Val810=
XM_005257366.3:c.2349A>T XP_005257423.1:p.Val783=
XM_005257367.4:c.2325A>T XP_005257424.1:p.Val775=
XM_005257368.4:c.2232A>T XP_005257425.1:p.Val744=
XM_005257369.4:c.1458A>T XP_005257426.1:p.Val486=
XM_005257370.4:c.1371A>T XP_005257427.1:p.Val457=
XM_005257371.4:c.1284A>T XP_005257428.1:p.Val428=
NM_001203251.2:c.1080A>T NP_001190180.1:p.Val360=
NM_001377265.1:c.2436A>T MANE Select NP_001364194.1:p.Val812=
NM_001377266.1:c.2145A>T NP_001364195.1:p.Val715=
NM_001377267.1:c.772-1012A>T NP_001364196.1:n.772-1012A>T
NM_001377268.1:c.993A>T NP_001364197.1:p.Val331=
NM_016834.5:c.1086A>T NP_058518.1:p.Val362=
NM_016841.5:c.993A>T NP_058525.1:p.Val331=
NR_165166.1:n.1091A>T
NM_001123066.4:c.2265A>T NP_001116538.2:p.Val755=
NM_001123067.4:c.1173A>T NP_001116539.1:p.Val391=
NM_001203252.2:c.1167A>T NP_001190181.1:p.Val389=
NM_005910.6:c.1260A>T NP_005901.2:p.Val420=
NM_016835.5:c.2211A>T NP_058519.3:p.Val737=