Canonical Allele Identifier: CA225413
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 14259
dbSNP Id: rs63750129

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45996612A>C , CM000679.2:g.45996612A>C GRCh38
NC_000017.10:g.44073978A>C , CM000679.1:g.44073978A>C GRCh37
NC_000017.9:g.41429815A>C NCBI36
NG_007398.1:g.107192A>C
NG_007398.2:g.107150A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262410.10:c.1946A>C MANE Select ENSP00000262410.6:p.Lys649Thr
ENST00000344290.10:c.1748A>C ENSP00000340820.6:p.Lys583Thr
ENST00000351559.10:c.770A>C ENSP00000303214.7:p.Lys257Thr
ENST00000535772.6:c.683A>C ENSP00000443028.2:p.Lys228Thr
ENST00000680542.1:c.683A>C ENSP00000505258.1:p.Lys228Thr
ENST00000680674.1:c.596A>C ENSP00000505478.1:p.Lys199Thr
ENST00000262410.9:c.1721A>C ENSP00000262410.5:p.Lys574Thr
ENST00000334239.12:c.596A>C ENSP00000334886.8:p.Lys199Thr
ENST00000340799.9:c.683A>C ENSP00000340438.5:p.Lys228Thr
ENST00000344290.9:c.1775A>C ENSP00000340820.5:p.Lys592Thr
ENST00000351559.9:c.770A>C ENSP00000303214.7:p.Lys257Thr
ENST00000415613.6:n.1775A>C ENSP00000410838.2:p.Lys592Thr
ENST00000420682.6:n.683A>C ENSP00000413056.2:p.Lys228Thr
ENST00000431008.7:n.770A>C ENSP00000389250.3:p.Lys257Thr
ENST00000446361.7:c.596A>C ENSP00000408975.3:p.Lys199Thr
ENST00000535772.5:c.770A>C ENSP00000443028.1:p.Lys257Thr
ENST00000570299.5:n.724A>C
ENST00000571987.5:n.1721A>C ENSP00000458742.1:p.Lys574Thr
ENST00000574436.5:n.770A>C ENSP00000460965.1:p.Lys257Thr
ENST00000576518.1:n.6055A>C
NM_001123066.3:c.1775A>C NP_001116538.2:p.Lys592Thr
NM_001123067.3:c.683A>C NP_001116539.1:p.Lys228Thr
NM_001203251.1:c.683A>C NP_001190180.1:p.Lys228Thr
NM_001203252.1:c.770A>C NP_001190181.1:p.Lys257Thr
NM_005910.5:c.770A>C NP_005901.2:p.Lys257Thr
NM_016834.4:c.596A>C NP_058518.1:p.Lys199Thr
NM_016835.4:c.1721A>C NP_058519.3:p.Lys574Thr
NM_016841.4:c.596A>C NP_058525.1:p.Lys199Thr
XM_005257362.3:c.2033A>C XP_005257419.1:p.Lys678Thr
XM_005257364.3:c.1946A>C XP_005257421.1:p.Lys649Thr
XM_005257365.3:c.2033A>C XP_005257422.1:p.Lys678Thr
XM_005257366.2:c.1859A>C XP_005257423.1:p.Lys620Thr
XM_005257367.3:c.1835A>C XP_005257424.1:p.Lys612Thr
XM_005257368.3:c.1835A>C XP_005257425.1:p.Lys612Thr
XM_005257369.3:c.968A>C XP_005257426.1:p.Lys323Thr
XM_005257370.3:c.881A>C XP_005257427.1:p.Lys294Thr
XM_005257371.3:c.794A>C XP_005257428.1:p.Lys265Thr
XM_005257362.4:c.2033A>C XP_005257419.1:p.Lys678Thr
XM_005257364.4:c.1946A>C XP_005257421.1:p.Lys649Thr
XM_005257365.4:c.2033A>C XP_005257422.1:p.Lys678Thr
XM_005257366.3:c.1859A>C XP_005257423.1:p.Lys620Thr
XM_005257367.4:c.1835A>C XP_005257424.1:p.Lys612Thr
XM_005257368.4:c.1835A>C XP_005257425.1:p.Lys612Thr
XM_005257369.4:c.968A>C XP_005257426.1:p.Lys323Thr
XM_005257370.4:c.881A>C XP_005257427.1:p.Lys294Thr
XM_005257371.4:c.794A>C XP_005257428.1:p.Lys265Thr
NM_001203251.2:c.683A>C NP_001190180.1:p.Lys228Thr
NM_001377265.1:c.1946A>C MANE Select NP_001364194.1:p.Lys649Thr
NM_001377266.1:c.1748A>C NP_001364195.1:p.Lys583Thr
NM_001377267.1:c.683A>C NP_001364196.1:p.Lys228Thr
NM_001377268.1:c.596A>C NP_001364197.1:p.Lys199Thr
NM_016834.5:c.596A>C NP_058518.1:p.Lys199Thr
NM_016841.5:c.596A>C NP_058525.1:p.Lys199Thr
NR_165166.1:n.694A>C
NM_001123066.4:c.1775A>C NP_001116538.2:p.Lys592Thr
NM_001123067.4:c.683A>C NP_001116539.1:p.Lys228Thr
NM_001203252.2:c.770A>C NP_001190181.1:p.Lys257Thr
NM_005910.6:c.770A>C NP_005901.2:p.Lys257Thr
NM_016835.5:c.1721A>C NP_058519.3:p.Lys574Thr