Canonical Allele Identifier: CA2262092867
Community Standard Title: NM_001377265.1(MAPT):c.1630G= (p.Ala544=)
Gene: MAPT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45991484G= , CM000679.2:g.45991484G= GRCh38
NC_000017.10:g.44068850G= , CM000679.1:g.44068850G= GRCh37
NC_000017.9:g.41424687G= NCBI36
NG_007398.1:g.102064G=
NG_007398.2:g.102022G=

Transcript Alleles

HGVS Amino-acid Change
NM_001377265.1:c.1630G= MANE Select NP_001364194.1:p.Ala544=
ENST00000262410.10:c.1630G= MANE Select ENSP00000262410.6:p.Ala544=
NM_001123066.3:c.1405G= NP_001116538.2:p.Ala469=
NM_001123066.4:c.1405G= NP_001116538.2:p.Ala469=
NM_001123067.3:c.367G= NP_001116539.1:p.Ala123=
NM_001123067.4:c.367G= NP_001116539.1:p.Ala123=
NM_001203251.1:c.367G= NP_001190180.1:p.Ala123=
NM_001203251.2:c.367G= NP_001190180.1:p.Ala123=
NM_001203252.1:c.454G= NP_001190181.1:p.Ala152=
NM_001203252.2:c.454G= NP_001190181.1:p.Ala152=
NM_001377266.1:c.1432G= NP_001364195.1:p.Ala478=
NM_001377267.1:c.367G= NP_001364196.1:p.Ala123=
NM_001377268.1:c.280G= NP_001364197.1:p.Ala94=
NM_005910.5:c.454G= NP_005901.2:p.Ala152=
NM_005910.6:c.454G= NP_005901.2:p.Ala152=
NM_016834.4:c.280G= NP_058518.1:p.Ala94=
NM_016834.5:c.280G= NP_058518.1:p.Ala94=
NM_016835.4:c.1405G= NP_058519.3:p.Ala469=
NM_016835.5:c.1405G= NP_058519.3:p.Ala469=
NM_016841.4:c.280G= NP_058525.1:p.Ala94=
NM_016841.5:c.280G= NP_058525.1:p.Ala94=
NR_165166.1:n.517G=
ENST00000262410.9:c.1405G= ENSP00000262410.5:p.Ala469=
ENST00000334239.12:c.280G= ENSP00000334886.8:p.Ala94=
ENST00000340799.9:c.367G= ENSP00000340438.5:p.Ala123=
ENST00000344290.10:c.1432G= ENSP00000340820.6:p.Ala478=
ENST00000344290.9:c.1405G= ENSP00000340820.5:p.Ala469=
ENST00000351559.10:c.454G= ENSP00000303214.7:p.Ala152=
ENST00000351559.9:c.454G= ENSP00000303214.7:p.Ala152=
ENST00000415613.6:c.1405G= ENSP00000410838.2:p.Ala469=
ENST00000420682.6:c.367G= ENSP00000413056.2:p.Ala123=
ENST00000420682.7:c.367G= ENSP00000413056.2:p.Ala123=
ENST00000431008.7:c.454G= ENSP00000389250.3:p.Ala152=
ENST00000446361.7:c.280G= ENSP00000408975.3:p.Ala94=
ENST00000535772.5:c.454G= ENSP00000443028.1:p.Ala152=
ENST00000535772.6:c.367G= ENSP00000443028.2:p.Ala123=
ENST00000570299.5:n.408G=
ENST00000571987.5:c.1405G= ENSP00000458742.1:p.Ala469=
ENST00000574436.5:c.454G= ENSP00000460965.1:p.Ala152=
ENST00000576518.1:n.5739G=
ENST00000680542.1:c.367G= ENSP00000505258.1:p.Ala123=
ENST00000680674.1:c.280G= ENSP00000505478.1:p.Ala94=
ENST00000703922.1:c.367G= ENSP00000515557.1:p.Ala123=
ENST00000703923.1:c.280G= ENSP00000515558.1:p.Ala94=
ENST00000703924.1:c.367G= ENSP00000515559.1:p.Ala123=
ENST00000703977.1:n.519G=
ENST00000703978.1:c.454G= ENSP00000515600.1:p.Ala152=
ENST00000703979.1:n.318G=
XM_005257362.3:c.1717G= XP_005257419.1:p.Ala573=
XM_005257362.4:c.1717G= XP_005257419.1:p.Ala573=
XM_005257364.3:c.1630G= XP_005257421.1:p.Ala544=
XM_005257364.4:c.1630G= XP_005257421.1:p.Ala544=
XM_005257365.3:c.1717G= XP_005257422.1:p.Ala573=
XM_005257365.4:c.1717G= XP_005257422.1:p.Ala573=
XM_005257366.2:c.1543G= XP_005257423.1:p.Ala515=
XM_005257366.3:c.1543G= XP_005257423.1:p.Ala515=
XM_005257367.3:c.1519G= XP_005257424.1:p.Ala507=
XM_005257367.4:c.1519G= XP_005257424.1:p.Ala507=
XM_005257368.3:c.1519G= XP_005257425.1:p.Ala507=
XM_005257368.4:c.1519G= XP_005257425.1:p.Ala507=
XM_005257369.3:c.652G= XP_005257426.1:p.Ala218=
XM_005257369.4:c.652G= XP_005257426.1:p.Ala218=
XM_005257370.3:c.565G= XP_005257427.1:p.Ala189=
XM_005257370.4:c.565G= XP_005257427.1:p.Ala189=
XM_005257371.3:c.478G= XP_005257428.1:p.Ala160=
XM_005257371.4:c.478G= XP_005257428.1:p.Ala160=