Canonical Allele Identifier: CA399983441
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014253T>G , CM000679.2:g.46014253T>G GRCh38
NC_000017.10:g.44091619T>G , CM000679.1:g.44091619T>G GRCh37
NC_000017.9:g.41447456T>G NCBI36
NG_007398.1:g.124833T>G
NG_007398.2:g.124791T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.839T>G ENSP00000413056.2:p.Val280Gly
ENST00000703922.1:c.839T>G ENSP00000515557.1:p.Val280Gly
ENST00000703923.1:c.752T>G ENSP00000515558.1:p.Val251Gly
ENST00000703924.1:c.839T>G ENSP00000515559.1:p.Val280Gly
ENST00000703978.1:c.926T>G ENSP00000515600.1:p.Val309Gly
ENST00000703979.1:n.697T>G
ENST00000703980.1:n.152T>G
ENST00000703981.1:n.95T>G
ENST00000262410.10:c.2102T>G MANE Select ENSP00000262410.6:p.Val701Gly
ENST00000344290.10:c.1811T>G ENSP00000340820.6:p.Val604Gly
ENST00000351559.10:c.926T>G ENSP00000303214.7:p.Val309Gly
ENST00000535772.6:c.746T>G ENSP00000443028.2:p.Val249Gly
ENST00000680542.1:c.839T>G ENSP00000505258.1:p.Val280Gly
ENST00000680674.1:c.752T>G ENSP00000505478.1:p.Val251Gly
ENST00000262410.9:c.1877T>G ENSP00000262410.5:p.Val626Gly
ENST00000334239.12:c.659T>G ENSP00000334886.8:p.Val220Gly
ENST00000340799.9:c.839T>G ENSP00000340438.5:p.Val280Gly
ENST00000344290.9:c.1931T>G ENSP00000340820.5:p.Val644Gly
ENST00000351559.9:c.926T>G ENSP00000303214.7:p.Val309Gly
ENST00000415613.6:c.1931T>G ENSP00000410838.2:p.Val644Gly
ENST00000420682.6:c.839T>G ENSP00000413056.2:p.Val280Gly
ENST00000431008.7:c.833T>G ENSP00000389250.3:p.Val278Gly
ENST00000446361.7:c.752T>G ENSP00000408975.3:p.Val251Gly
ENST00000535772.5:c.833T>G ENSP00000443028.1:p.Val278Gly
ENST00000570299.5:n.777-4365T>G
ENST00000571987.5:c.1877T>G ENSP00000458742.1:p.Val626Gly
ENST00000574436.5:c.926T>G ENSP00000460965.1:p.Val309Gly
ENST00000576518.1:n.6118T>G
NM_001123066.3:c.1931T>G NP_001116538.2:p.Val644Gly
NM_001123067.3:c.839T>G NP_001116539.1:p.Val280Gly
NM_001203251.1:c.746T>G NP_001190180.1:p.Val249Gly
NM_001203252.1:c.833T>G NP_001190181.1:p.Val278Gly
NM_005910.5:c.926T>G NP_005901.2:p.Val309Gly
NM_016834.4:c.752T>G NP_058518.1:p.Val251Gly
NM_016835.4:c.1877T>G NP_058519.3:p.Val626Gly
NM_016841.4:c.659T>G NP_058525.1:p.Val220Gly
XM_005257362.3:c.2189T>G XP_005257419.1:p.Val730Gly
XM_005257364.3:c.2102T>G XP_005257421.1:p.Val701Gly
XM_005257365.3:c.2096T>G XP_005257422.1:p.Val699Gly
XM_005257366.2:c.2015T>G XP_005257423.1:p.Val672Gly
XM_005257367.3:c.1991T>G XP_005257424.1:p.Val664Gly
XM_005257368.3:c.1898T>G XP_005257425.1:p.Val633Gly
XM_005257369.3:c.1124T>G XP_005257426.1:p.Val375Gly
XM_005257370.3:c.1037T>G XP_005257427.1:p.Val346Gly
XM_005257371.3:c.950T>G XP_005257428.1:p.Val317Gly
XM_005257362.4:c.2189T>G XP_005257419.1:p.Val730Gly
XM_005257364.4:c.2102T>G XP_005257421.1:p.Val701Gly
XM_005257365.4:c.2096T>G XP_005257422.1:p.Val699Gly
XM_005257366.3:c.2015T>G XP_005257423.1:p.Val672Gly
XM_005257367.4:c.1991T>G XP_005257424.1:p.Val664Gly
XM_005257368.4:c.1898T>G XP_005257425.1:p.Val633Gly
XM_005257369.4:c.1124T>G XP_005257426.1:p.Val375Gly
XM_005257370.4:c.1037T>G XP_005257427.1:p.Val346Gly
XM_005257371.4:c.950T>G XP_005257428.1:p.Val317Gly
NM_001203251.2:c.746T>G NP_001190180.1:p.Val249Gly
NM_001377265.1:c.2102T>G MANE Select NP_001364194.1:p.Val701Gly
NM_001377266.1:c.1811T>G NP_001364195.1:p.Val604Gly
NM_001377267.1:c.746T>G NP_001364196.1:p.Val249Gly
NM_001377268.1:c.659T>G NP_001364197.1:p.Val220Gly
NM_016834.5:c.752T>G NP_058518.1:p.Val251Gly
NM_016841.5:c.659T>G NP_058525.1:p.Val220Gly
NR_165166.1:n.757T>G
NM_001123066.4:c.1931T>G NP_001116538.2:p.Val644Gly
NM_001123067.4:c.839T>G NP_001116539.1:p.Val280Gly
NM_001203252.2:c.833T>G NP_001190181.1:p.Val278Gly
NM_005910.6:c.926T>G NP_005901.2:p.Val309Gly
NM_016835.5:c.1877T>G NP_058519.3:p.Val626Gly