Canonical Allele Identifier: CA399977982
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45996423G>C , CM000679.2:g.45996423G>C GRCh38
NC_000017.10:g.44073789G>C , CM000679.1:g.44073789G>C GRCh37
NC_000017.9:g.41429626G>C NCBI36
NG_007398.1:g.107003G>C
NG_007398.2:g.106961G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000420682.7:c.494G>C ENSP00000413056.2:p.Arg165Pro
ENST00000703922.1:c.494G>C ENSP00000515557.1:p.Arg165Pro
ENST00000703923.1:c.407G>C ENSP00000515558.1:p.Arg136Pro
ENST00000703924.1:c.494G>C ENSP00000515559.1:p.Arg165Pro
ENST00000703978.1:c.581G>C ENSP00000515600.1:p.Arg194Pro
ENST00000703979.1:n.445G>C
ENST00000262410.10:c.1757G>C MANE Select ENSP00000262410.6:p.Arg586Pro
ENST00000344290.10:c.1559G>C ENSP00000340820.6:p.Arg520Pro
ENST00000351559.10:c.581G>C ENSP00000303214.7:p.Arg194Pro
ENST00000535772.6:c.494G>C ENSP00000443028.2:p.Arg165Pro
ENST00000680542.1:c.494G>C ENSP00000505258.1:p.Arg165Pro
ENST00000680674.1:c.407G>C ENSP00000505478.1:p.Arg136Pro
ENST00000262410.9:c.1532G>C ENSP00000262410.5:p.Arg511Pro
ENST00000334239.12:c.407G>C ENSP00000334886.8:p.Arg136Pro
ENST00000340799.9:c.494G>C ENSP00000340438.5:p.Arg165Pro
ENST00000344290.9:c.1586G>C ENSP00000340820.5:p.Arg529Pro
ENST00000351559.9:c.581G>C ENSP00000303214.7:p.Arg194Pro
ENST00000415613.6:c.1586G>C ENSP00000410838.2:p.Arg529Pro
ENST00000420682.6:c.494G>C ENSP00000413056.2:p.Arg165Pro
ENST00000431008.7:c.581G>C ENSP00000389250.3:p.Arg194Pro
ENST00000446361.7:c.407G>C ENSP00000408975.3:p.Arg136Pro
ENST00000535772.5:c.581G>C ENSP00000443028.1:p.Arg194Pro
ENST00000570299.5:n.535G>C
ENST00000571987.5:c.1532G>C ENSP00000458742.1:p.Arg511Pro
ENST00000574436.5:c.581G>C ENSP00000460965.1:p.Arg194Pro
ENST00000576518.1:n.5866G>C
NM_001123066.3:c.1586G>C NP_001116538.2:p.Arg529Pro
NM_001123067.3:c.494G>C NP_001116539.1:p.Arg165Pro
NM_001203251.1:c.494G>C NP_001190180.1:p.Arg165Pro
NM_001203252.1:c.581G>C NP_001190181.1:p.Arg194Pro
NM_005910.5:c.581G>C NP_005901.2:p.Arg194Pro
NM_016834.4:c.407G>C NP_058518.1:p.Arg136Pro
NM_016835.4:c.1532G>C NP_058519.3:p.Arg511Pro
NM_016841.4:c.407G>C NP_058525.1:p.Arg136Pro
XM_005257362.3:c.1844G>C XP_005257419.1:p.Arg615Pro
XM_005257364.3:c.1757G>C XP_005257421.1:p.Arg586Pro
XM_005257365.3:c.1844G>C XP_005257422.1:p.Arg615Pro
XM_005257366.2:c.1670G>C XP_005257423.1:p.Arg557Pro
XM_005257367.3:c.1646G>C XP_005257424.1:p.Arg549Pro
XM_005257368.3:c.1646G>C XP_005257425.1:p.Arg549Pro
XM_005257369.3:c.779G>C XP_005257426.1:p.Arg260Pro
XM_005257370.3:c.692G>C XP_005257427.1:p.Arg231Pro
XM_005257371.3:c.605G>C XP_005257428.1:p.Arg202Pro
XM_005257362.4:c.1844G>C XP_005257419.1:p.Arg615Pro
XM_005257364.4:c.1757G>C XP_005257421.1:p.Arg586Pro
XM_005257365.4:c.1844G>C XP_005257422.1:p.Arg615Pro
XM_005257366.3:c.1670G>C XP_005257423.1:p.Arg557Pro
XM_005257367.4:c.1646G>C XP_005257424.1:p.Arg549Pro
XM_005257368.4:c.1646G>C XP_005257425.1:p.Arg549Pro
XM_005257369.4:c.779G>C XP_005257426.1:p.Arg260Pro
XM_005257370.4:c.692G>C XP_005257427.1:p.Arg231Pro
XM_005257371.4:c.605G>C XP_005257428.1:p.Arg202Pro
NM_001203251.2:c.494G>C NP_001190180.1:p.Arg165Pro
NM_001377265.1:c.1757G>C MANE Select NP_001364194.1:p.Arg586Pro
NM_001377266.1:c.1559G>C NP_001364195.1:p.Arg520Pro
NM_001377267.1:c.494G>C NP_001364196.1:p.Arg165Pro
NM_001377268.1:c.407G>C NP_001364197.1:p.Arg136Pro
NM_016834.5:c.407G>C NP_058518.1:p.Arg136Pro
NM_016841.5:c.407G>C NP_058525.1:p.Arg136Pro
NR_165166.1:n.591-86G>C
NM_001123066.4:c.1586G>C NP_001116538.2:p.Arg529Pro
NM_001123067.4:c.494G>C NP_001116539.1:p.Arg165Pro
NM_001203252.2:c.581G>C NP_001190181.1:p.Arg194Pro
NM_005910.6:c.581G>C NP_005901.2:p.Arg194Pro
NM_016835.5:c.1532G>C NP_058519.3:p.Arg511Pro