Canonical Allele Identifier: CA399983634
Community Standard Title: NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)
Gene: MAPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46018628G>C , CM000679.2:g.46018628G>C GRCh38
NC_000017.10:g.44095994G>C , CM000679.1:g.44095994G>C GRCh37
NC_000017.9:g.41451841G>C NCBI36
NG_007398.1:g.129218G>C
NG_007398.2:g.129166G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001377265.1:c.2184G>C MANE Select NP_001364194.1:p.Gln728His
ENST00000262410.10:c.2184G>C MANE Select ENSP00000262410.6:p.Gln728His
NM_001123066.3:c.2013G>C NP_001116538.2:p.Gln671His
NM_001123066.4:c.2013G>C NP_001116538.2:p.Gln671His
NM_001123067.3:c.921G>C NP_001116539.1:p.Gln307His
NM_001123067.4:c.921G>C NP_001116539.1:p.Gln307His
NM_001203251.1:c.828G>C NP_001190180.1:p.Gln276His
NM_001203251.2:c.828G>C NP_001190180.1:p.Gln276His
NM_001203252.1:c.915G>C NP_001190181.1:p.Gln305His
NM_001203252.2:c.915G>C NP_001190181.1:p.Gln305His
NM_001377266.1:c.1893G>C NP_001364195.1:p.Gln631His
NM_001377267.1:c.771+4350G>C NP_001364196.1:n.771+4350G>C
NM_001377268.1:c.741G>C NP_001364197.1:p.Gln247His
NM_005910.5:c.1008G>C NP_005901.2:p.Gln336His
NM_005910.6:c.1008G>C NP_005901.2:p.Gln336His
NM_016834.4:c.834G>C NP_058518.1:p.Gln278His
NM_016834.5:c.834G>C NP_058518.1:p.Gln278His
NM_016835.4:c.1959G>C NP_058519.3:p.Gln653His
NM_016835.5:c.1959G>C NP_058519.3:p.Gln653His
NM_016841.4:c.741G>C NP_058525.1:p.Gln247His
NM_016841.5:c.741G>C NP_058525.1:p.Gln247His
NR_165166.1:n.839G>C
ENST00000262410.9:c.1959G>C ENSP00000262410.5:p.Gln653His
ENST00000334239.12:c.741G>C ENSP00000334886.8:p.Gln247His
ENST00000340799.9:c.921G>C ENSP00000340438.5:p.Gln307His
ENST00000344290.10:c.1893G>C ENSP00000340820.6:p.Gln631His
ENST00000344290.9:c.2013G>C ENSP00000340820.5:p.Gln671His
ENST00000351559.10:c.1008G>C ENSP00000303214.7:p.Gln336His
ENST00000351559.9:c.1008G>C ENSP00000303214.7:p.Gln336His
ENST00000415613.6:c.2013G>C ENSP00000410838.2:p.Gln671His
ENST00000420682.6:c.921G>C ENSP00000413056.2:p.Gln307His
ENST00000420682.7:c.921G>C ENSP00000413056.2:p.Gln307His
ENST00000431008.7:c.915G>C ENSP00000389250.3:p.Gln305His
ENST00000446361.7:c.834G>C ENSP00000408975.3:p.Gln278His
ENST00000535772.5:c.915G>C ENSP00000443028.1:p.Gln305His
ENST00000535772.6:c.828G>C ENSP00000443028.2:p.Gln276His
ENST00000570299.5:n.787G>C
ENST00000571987.5:c.1959G>C ENSP00000458742.1:p.Gln653His
ENST00000574436.5:c.1008G>C ENSP00000460965.1:p.Gln336His
ENST00000576518.1:n.6200G>C
ENST00000680542.1:c.921G>C ENSP00000505258.1:p.Gln307His
ENST00000680674.1:c.957G>C ENSP00000505478.1:p.Gln319His
ENST00000703922.1:c.921G>C ENSP00000515557.1:p.Gln307His
ENST00000703923.1:c.834G>C ENSP00000515558.1:p.Gln278His
ENST00000703924.1:c.921G>C ENSP00000515559.1:p.Gln307His
ENST00000703978.1:c.1008G>C ENSP00000515600.1:p.Gln336His
ENST00000703979.1:n.779G>C
ENST00000703980.1:n.234G>C
ENST00000703981.1:n.192G>C
ENST00000703982.1:n.426G>C
XM_005257362.3:c.2271G>C XP_005257419.1:p.Gln757His
XM_005257362.4:c.2271G>C XP_005257419.1:p.Gln757His
XM_005257364.3:c.2184G>C XP_005257421.1:p.Gln728His
XM_005257364.4:c.2184G>C XP_005257421.1:p.Gln728His
XM_005257365.3:c.2178G>C XP_005257422.1:p.Gln726His
XM_005257365.4:c.2178G>C XP_005257422.1:p.Gln726His
XM_005257366.2:c.2097G>C XP_005257423.1:p.Gln699His
XM_005257366.3:c.2097G>C XP_005257423.1:p.Gln699His
XM_005257367.3:c.2073G>C XP_005257424.1:p.Gln691His
XM_005257367.4:c.2073G>C XP_005257424.1:p.Gln691His
XM_005257368.3:c.1980G>C XP_005257425.1:p.Gln660His
XM_005257368.4:c.1980G>C XP_005257425.1:p.Gln660His
XM_005257369.3:c.1206G>C XP_005257426.1:p.Gln402His
XM_005257369.4:c.1206G>C XP_005257426.1:p.Gln402His
XM_005257370.3:c.1119G>C XP_005257427.1:p.Gln373His
XM_005257370.4:c.1119G>C XP_005257427.1:p.Gln373His
XM_005257371.3:c.1032G>C XP_005257428.1:p.Gln344His
XM_005257371.4:c.1032G>C XP_005257428.1:p.Gln344His