Canonical Allele Identifier: CA399983638
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46018630T>A , CM000679.2:g.46018630T>A GRCh38
NC_000017.10:g.44095996T>A , CM000679.1:g.44095996T>A GRCh37
NC_000017.9:g.41451843T>A NCBI36
NG_007398.1:g.129220T>A
NG_007398.2:g.129168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000420682.7:c.923T>A ENSP00000413056.2:p.Val308Glu
ENST00000703922.1:c.923T>A ENSP00000515557.1:p.Val308Glu
ENST00000703923.1:c.836T>A ENSP00000515558.1:p.Val279Glu
ENST00000703924.1:c.923T>A ENSP00000515559.1:p.Val308Glu
ENST00000703978.1:c.1010T>A ENSP00000515600.1:p.Val337Glu
ENST00000703979.1:n.781T>A
ENST00000703980.1:n.236T>A
ENST00000703981.1:n.194T>A
ENST00000703982.1:n.428T>A
ENST00000262410.10:c.2186T>A MANE Select ENSP00000262410.6:p.Val729Glu
ENST00000344290.10:c.1895T>A ENSP00000340820.6:p.Val632Glu
ENST00000351559.10:c.1010T>A ENSP00000303214.7:p.Val337Glu
ENST00000535772.6:c.830T>A ENSP00000443028.2:p.Val277Glu
ENST00000680542.1:c.923T>A ENSP00000505258.1:p.Val308Glu
ENST00000680674.1:c.959T>A ENSP00000505478.1:p.Val320Glu
ENST00000262410.9:c.1961T>A ENSP00000262410.5:p.Val654Glu
ENST00000334239.12:c.743T>A ENSP00000334886.8:p.Val248Glu
ENST00000340799.9:c.923T>A ENSP00000340438.5:p.Val308Glu
ENST00000344290.9:c.2015T>A ENSP00000340820.5:p.Val672Glu
ENST00000351559.9:c.1010T>A ENSP00000303214.7:p.Val337Glu
ENST00000415613.6:c.2015T>A ENSP00000410838.2:p.Val672Glu
ENST00000420682.6:c.923T>A ENSP00000413056.2:p.Val308Glu
ENST00000431008.7:c.917T>A ENSP00000389250.3:p.Val306Glu
ENST00000446361.7:c.836T>A ENSP00000408975.3:p.Val279Glu
ENST00000535772.5:c.917T>A ENSP00000443028.1:p.Val306Glu
ENST00000570299.5:n.789T>A
ENST00000571987.5:c.1961T>A ENSP00000458742.1:p.Val654Glu
ENST00000574436.5:c.1010T>A ENSP00000460965.1:p.Val337Glu
ENST00000576518.1:n.6202T>A
NM_001123066.3:c.2015T>A NP_001116538.2:p.Val672Glu
NM_001123067.3:c.923T>A NP_001116539.1:p.Val308Glu
NM_001203251.1:c.830T>A NP_001190180.1:p.Val277Glu
NM_001203252.1:c.917T>A NP_001190181.1:p.Val306Glu
NM_005910.5:c.1010T>A NP_005901.2:p.Val337Glu
NM_016834.4:c.836T>A NP_058518.1:p.Val279Glu
NM_016835.4:c.1961T>A NP_058519.3:p.Val654Glu
NM_016841.4:c.743T>A NP_058525.1:p.Val248Glu
XM_005257362.3:c.2273T>A XP_005257419.1:p.Val758Glu
XM_005257364.3:c.2186T>A XP_005257421.1:p.Val729Glu
XM_005257365.3:c.2180T>A XP_005257422.1:p.Val727Glu
XM_005257366.2:c.2099T>A XP_005257423.1:p.Val700Glu
XM_005257367.3:c.2075T>A XP_005257424.1:p.Val692Glu
XM_005257368.3:c.1982T>A XP_005257425.1:p.Val661Glu
XM_005257369.3:c.1208T>A XP_005257426.1:p.Val403Glu
XM_005257370.3:c.1121T>A XP_005257427.1:p.Val374Glu
XM_005257371.3:c.1034T>A XP_005257428.1:p.Val345Glu
XM_005257362.4:c.2273T>A XP_005257419.1:p.Val758Glu
XM_005257364.4:c.2186T>A XP_005257421.1:p.Val729Glu
XM_005257365.4:c.2180T>A XP_005257422.1:p.Val727Glu
XM_005257366.3:c.2099T>A XP_005257423.1:p.Val700Glu
XM_005257367.4:c.2075T>A XP_005257424.1:p.Val692Glu
XM_005257368.4:c.1982T>A XP_005257425.1:p.Val661Glu
XM_005257369.4:c.1208T>A XP_005257426.1:p.Val403Glu
XM_005257370.4:c.1121T>A XP_005257427.1:p.Val374Glu
XM_005257371.4:c.1034T>A XP_005257428.1:p.Val345Glu
NM_001203251.2:c.830T>A NP_001190180.1:p.Val277Glu
NM_001377265.1:c.2186T>A MANE Select NP_001364194.1:p.Val729Glu
NM_001377266.1:c.1895T>A NP_001364195.1:p.Val632Glu
NM_001377267.1:c.771+4352T>A NP_001364196.1:n.771+4352T>A
NM_001377268.1:c.743T>A NP_001364197.1:p.Val248Glu
NM_016834.5:c.836T>A NP_058518.1:p.Val279Glu
NM_016841.5:c.743T>A NP_058525.1:p.Val248Glu
NR_165166.1:n.841T>A
NM_001123066.4:c.2015T>A NP_001116538.2:p.Val672Glu
NM_001123067.4:c.923T>A NP_001116539.1:p.Val308Glu
NM_001203252.2:c.917T>A NP_001190181.1:p.Val306Glu
NM_005910.6:c.1010T>A NP_005901.2:p.Val337Glu
NM_016835.5:c.1961T>A NP_058519.3:p.Val654Glu