Canonical Allele Identifier: CA399983534
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014295G>T , CM000679.2:g.46014295G>T GRCh38
NC_000017.10:g.44091661G>T , CM000679.1:g.44091661G>T GRCh37
NC_000017.9:g.41447498G>T NCBI36
NG_007398.1:g.124875G>T
NG_007398.2:g.124833G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.881G>T ENSP00000413056.2:p.Gly294Val
ENST00000703922.1:c.881G>T ENSP00000515557.1:p.Gly294Val
ENST00000703923.1:c.794G>T ENSP00000515558.1:p.Gly265Val
ENST00000703924.1:c.881G>T ENSP00000515559.1:p.Gly294Val
ENST00000703978.1:c.968G>T ENSP00000515600.1:p.Gly323Val
ENST00000703979.1:n.739G>T
ENST00000703980.1:n.194G>T
ENST00000703981.1:n.137G>T
ENST00000262410.10:c.2144G>T MANE Select ENSP00000262410.6:p.Gly715Val
ENST00000344290.10:c.1853G>T ENSP00000340820.6:p.Gly618Val
ENST00000351559.10:c.968G>T ENSP00000303214.7:p.Gly323Val
ENST00000535772.6:c.788G>T ENSP00000443028.2:p.Gly263Val
ENST00000680542.1:c.881G>T ENSP00000505258.1:p.Gly294Val
ENST00000680674.1:c.794G>T ENSP00000505478.1:p.Gly265Val
ENST00000262410.9:c.1919G>T ENSP00000262410.5:p.Gly640Val
ENST00000334239.12:c.701G>T ENSP00000334886.8:p.Gly234Val
ENST00000340799.9:c.881G>T ENSP00000340438.5:p.Gly294Val
ENST00000344290.9:c.1973G>T ENSP00000340820.5:p.Gly658Val
ENST00000351559.9:c.968G>T ENSP00000303214.7:p.Gly323Val
ENST00000415613.6:c.1973G>T ENSP00000410838.2:p.Gly658Val
ENST00000420682.6:c.881G>T ENSP00000413056.2:p.Gly294Val
ENST00000431008.7:c.875G>T ENSP00000389250.3:p.Gly292Val
ENST00000446361.7:c.794G>T ENSP00000408975.3:p.Gly265Val
ENST00000535772.5:c.875G>T ENSP00000443028.1:p.Gly292Val
ENST00000570299.5:n.777-4323G>T
ENST00000571987.5:c.1919G>T ENSP00000458742.1:p.Gly640Val
ENST00000574436.5:c.968G>T ENSP00000460965.1:p.Gly323Val
ENST00000576518.1:n.6160G>T
NM_001123066.3:c.1973G>T NP_001116538.2:p.Gly658Val
NM_001123067.3:c.881G>T NP_001116539.1:p.Gly294Val
NM_001203251.1:c.788G>T NP_001190180.1:p.Gly263Val
NM_001203252.1:c.875G>T NP_001190181.1:p.Gly292Val
NM_005910.5:c.968G>T NP_005901.2:p.Gly323Val
NM_016834.4:c.794G>T NP_058518.1:p.Gly265Val
NM_016835.4:c.1919G>T NP_058519.3:p.Gly640Val
NM_016841.4:c.701G>T NP_058525.1:p.Gly234Val
XM_005257362.3:c.2231G>T XP_005257419.1:p.Gly744Val
XM_005257364.3:c.2144G>T XP_005257421.1:p.Gly715Val
XM_005257365.3:c.2138G>T XP_005257422.1:p.Gly713Val
XM_005257366.2:c.2057G>T XP_005257423.1:p.Gly686Val
XM_005257367.3:c.2033G>T XP_005257424.1:p.Gly678Val
XM_005257368.3:c.1940G>T XP_005257425.1:p.Gly647Val
XM_005257369.3:c.1166G>T XP_005257426.1:p.Gly389Val
XM_005257370.3:c.1079G>T XP_005257427.1:p.Gly360Val
XM_005257371.3:c.992G>T XP_005257428.1:p.Gly331Val
XM_005257362.4:c.2231G>T XP_005257419.1:p.Gly744Val
XM_005257364.4:c.2144G>T XP_005257421.1:p.Gly715Val
XM_005257365.4:c.2138G>T XP_005257422.1:p.Gly713Val
XM_005257366.3:c.2057G>T XP_005257423.1:p.Gly686Val
XM_005257367.4:c.2033G>T XP_005257424.1:p.Gly678Val
XM_005257368.4:c.1940G>T XP_005257425.1:p.Gly647Val
XM_005257369.4:c.1166G>T XP_005257426.1:p.Gly389Val
XM_005257370.4:c.1079G>T XP_005257427.1:p.Gly360Val
XM_005257371.4:c.992G>T XP_005257428.1:p.Gly331Val
NM_001203251.2:c.788G>T NP_001190180.1:p.Gly263Val
NM_001377265.1:c.2144G>T MANE Select NP_001364194.1:p.Gly715Val
NM_001377266.1:c.1853G>T NP_001364195.1:p.Gly618Val
NM_001377267.1:c.771+17G>T NP_001364196.1:n.771+17G>T
NM_001377268.1:c.701G>T NP_001364197.1:p.Gly234Val
NM_016834.5:c.794G>T NP_058518.1:p.Gly265Val
NM_016841.5:c.701G>T NP_058525.1:p.Gly234Val
NR_165166.1:n.799G>T
NM_001123066.4:c.1973G>T NP_001116538.2:p.Gly658Val
NM_001123067.4:c.881G>T NP_001116539.1:p.Gly294Val
NM_001203252.2:c.875G>T NP_001190181.1:p.Gly292Val
NM_005910.6:c.968G>T NP_005901.2:p.Gly323Val
NM_016835.5:c.1919G>T NP_058519.3:p.Gly640Val