Canonical Allele Identifier: CA399984572
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46024103G>C , CM000679.2:g.46024103G>C GRCh38
NC_000017.10:g.44101469G>C , CM000679.1:g.44101469G>C GRCh37
NC_000017.9:g.41457314G>C NCBI36
NG_007398.1:g.134691G>C
NG_007398.2:g.134641G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.1171G>C ENSP00000413056.2:p.Val391Leu
ENST00000703922.1:c.1171G>C ENSP00000515557.1:p.Val391Leu
ENST00000703923.1:c.1084G>C ENSP00000515558.1:p.Val362Leu
ENST00000703924.1:c.1171G>C ENSP00000515559.1:p.Val391Leu
ENST00000703978.1:c.1258G>C ENSP00000515600.1:p.Val420Leu
ENST00000703980.1:n.484G>C
ENST00000703981.1:n.442G>C
ENST00000703982.1:n.676G>C
ENST00000262410.10:c.2434G>C MANE Select ENSP00000262410.6:p.Val812Leu
ENST00000344290.10:c.2143G>C ENSP00000340820.6:p.Val715Leu
ENST00000351559.10:c.1258G>C ENSP00000303214.7:p.Val420Leu
ENST00000535772.6:c.1078G>C ENSP00000443028.2:p.Val360Leu
ENST00000680542.1:c.1171G>C ENSP00000505258.1:p.Val391Leu
ENST00000680674.1:c.1207G>C ENSP00000505478.1:p.Val403Leu
ENST00000262410.9:c.2209G>C ENSP00000262410.5:p.Val737Leu
ENST00000334239.12:c.991G>C ENSP00000334886.8:p.Val331Leu
ENST00000340799.9:c.1171G>C ENSP00000340438.5:p.Val391Leu
ENST00000344290.9:c.2263G>C ENSP00000340820.5:p.Val755Leu
ENST00000351559.9:c.1258G>C ENSP00000303214.7:p.Val420Leu
ENST00000415613.6:c.2263G>C ENSP00000410838.2:p.Val755Leu
ENST00000420682.6:c.1171G>C ENSP00000413056.2:p.Val391Leu
ENST00000431008.7:c.1165G>C ENSP00000389250.3:p.Val389Leu
ENST00000446361.7:c.1084G>C ENSP00000408975.3:p.Val362Leu
ENST00000535772.5:c.1165G>C ENSP00000443028.1:p.Val389Leu
ENST00000571987.5:c.2209G>C ENSP00000458742.1:p.Val737Leu
ENST00000574436.5:c.1258G>C ENSP00000460965.1:p.Val420Leu
ENST00000576518.1:n.6450G>C
NM_001123066.3:c.2263G>C NP_001116538.2:p.Val755Leu
NM_001123067.3:c.1171G>C NP_001116539.1:p.Val391Leu
NM_001203251.1:c.1078G>C NP_001190180.1:p.Val360Leu
NM_001203252.1:c.1165G>C NP_001190181.1:p.Val389Leu
NM_005910.5:c.1258G>C NP_005901.2:p.Val420Leu
NM_016834.4:c.1084G>C NP_058518.1:p.Val362Leu
NM_016835.4:c.2209G>C NP_058519.3:p.Val737Leu
NM_016841.4:c.991G>C NP_058525.1:p.Val331Leu
XM_005257362.3:c.2521G>C XP_005257419.1:p.Val841Leu
XM_005257364.3:c.2434G>C XP_005257421.1:p.Val812Leu
XM_005257365.3:c.2428G>C XP_005257422.1:p.Val810Leu
XM_005257366.2:c.2347G>C XP_005257423.1:p.Val783Leu
XM_005257367.3:c.2323G>C XP_005257424.1:p.Val775Leu
XM_005257368.3:c.2230G>C XP_005257425.1:p.Val744Leu
XM_005257369.3:c.1456G>C XP_005257426.1:p.Val486Leu
XM_005257370.3:c.1369G>C XP_005257427.1:p.Val457Leu
XM_005257371.3:c.1282G>C XP_005257428.1:p.Val428Leu
XM_005257362.4:c.2521G>C XP_005257419.1:p.Val841Leu
XM_005257364.4:c.2434G>C XP_005257421.1:p.Val812Leu
XM_005257365.4:c.2428G>C XP_005257422.1:p.Val810Leu
XM_005257366.3:c.2347G>C XP_005257423.1:p.Val783Leu
XM_005257367.4:c.2323G>C XP_005257424.1:p.Val775Leu
XM_005257368.4:c.2230G>C XP_005257425.1:p.Val744Leu
XM_005257369.4:c.1456G>C XP_005257426.1:p.Val486Leu
XM_005257370.4:c.1369G>C XP_005257427.1:p.Val457Leu
XM_005257371.4:c.1282G>C XP_005257428.1:p.Val428Leu
NM_001203251.2:c.1078G>C NP_001190180.1:p.Val360Leu
NM_001377265.1:c.2434G>C MANE Select NP_001364194.1:p.Val812Leu
NM_001377266.1:c.2143G>C NP_001364195.1:p.Val715Leu
NM_001377267.1:c.772-1014G>C NP_001364196.1:n.772-1014G>C
NM_001377268.1:c.991G>C NP_001364197.1:p.Val331Leu
NM_016834.5:c.1084G>C NP_058518.1:p.Val362Leu
NM_016841.5:c.991G>C NP_058525.1:p.Val331Leu
NR_165166.1:n.1089G>C
NM_001123066.4:c.2263G>C NP_001116538.2:p.Val755Leu
NM_001123067.4:c.1171G>C NP_001116539.1:p.Val391Leu
NM_001203252.2:c.1165G>C NP_001190181.1:p.Val389Leu
NM_005910.6:c.1258G>C NP_005901.2:p.Val420Leu
NM_016835.5:c.2209G>C NP_058519.3:p.Val737Leu