Canonical Allele Identifier: CA399983421
Gene: MAPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46014244T>G , CM000679.2:g.46014244T>G GRCh38
NC_000017.10:g.44091610T>G , CM000679.1:g.44091610T>G GRCh37
NC_000017.9:g.41447447T>G NCBI36
NG_007398.1:g.124824T>G
NG_007398.2:g.124782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420682.7:c.830T>G ENSP00000413056.2:p.Val277Gly
ENST00000703922.1:c.830T>G ENSP00000515557.1:p.Val277Gly
ENST00000703923.1:c.743T>G ENSP00000515558.1:p.Val248Gly
ENST00000703924.1:c.830T>G ENSP00000515559.1:p.Val277Gly
ENST00000703978.1:c.917T>G ENSP00000515600.1:p.Val306Gly
ENST00000703979.1:n.688T>G
ENST00000703980.1:n.143T>G
ENST00000703981.1:n.86T>G
ENST00000262410.10:c.2093T>G MANE Select ENSP00000262410.6:p.Val698Gly
ENST00000344290.10:c.1802T>G ENSP00000340820.6:p.Val601Gly
ENST00000351559.10:c.917T>G ENSP00000303214.7:p.Val306Gly
ENST00000535772.6:c.737T>G ENSP00000443028.2:p.Val246Gly
ENST00000680542.1:c.830T>G ENSP00000505258.1:p.Val277Gly
ENST00000680674.1:c.743T>G ENSP00000505478.1:p.Val248Gly
ENST00000262410.9:c.1868T>G ENSP00000262410.5:p.Val623Gly
ENST00000334239.12:c.650T>G ENSP00000334886.8:p.Val217Gly
ENST00000340799.9:c.830T>G ENSP00000340438.5:p.Val277Gly
ENST00000344290.9:c.1922T>G ENSP00000340820.5:p.Val641Gly
ENST00000351559.9:c.917T>G ENSP00000303214.7:p.Val306Gly
ENST00000415613.6:c.1922T>G ENSP00000410838.2:p.Val641Gly
ENST00000420682.6:c.830T>G ENSP00000413056.2:p.Val277Gly
ENST00000431008.7:c.824T>G ENSP00000389250.3:p.Val275Gly
ENST00000446361.7:c.743T>G ENSP00000408975.3:p.Val248Gly
ENST00000535772.5:c.824T>G ENSP00000443028.1:p.Val275Gly
ENST00000570299.5:n.777-4374T>G
ENST00000571987.5:c.1868T>G ENSP00000458742.1:p.Val623Gly
ENST00000574436.5:c.917T>G ENSP00000460965.1:p.Val306Gly
ENST00000576518.1:n.6109T>G
NM_001123066.3:c.1922T>G NP_001116538.2:p.Val641Gly
NM_001123067.3:c.830T>G NP_001116539.1:p.Val277Gly
NM_001203251.1:c.737T>G NP_001190180.1:p.Val246Gly
NM_001203252.1:c.824T>G NP_001190181.1:p.Val275Gly
NM_005910.5:c.917T>G NP_005901.2:p.Val306Gly
NM_016834.4:c.743T>G NP_058518.1:p.Val248Gly
NM_016835.4:c.1868T>G NP_058519.3:p.Val623Gly
NM_016841.4:c.650T>G NP_058525.1:p.Val217Gly
XM_005257362.3:c.2180T>G XP_005257419.1:p.Val727Gly
XM_005257364.3:c.2093T>G XP_005257421.1:p.Val698Gly
XM_005257365.3:c.2087T>G XP_005257422.1:p.Val696Gly
XM_005257366.2:c.2006T>G XP_005257423.1:p.Val669Gly
XM_005257367.3:c.1982T>G XP_005257424.1:p.Val661Gly
XM_005257368.3:c.1889T>G XP_005257425.1:p.Val630Gly
XM_005257369.3:c.1115T>G XP_005257426.1:p.Val372Gly
XM_005257370.3:c.1028T>G XP_005257427.1:p.Val343Gly
XM_005257371.3:c.941T>G XP_005257428.1:p.Val314Gly
XM_005257362.4:c.2180T>G XP_005257419.1:p.Val727Gly
XM_005257364.4:c.2093T>G XP_005257421.1:p.Val698Gly
XM_005257365.4:c.2087T>G XP_005257422.1:p.Val696Gly
XM_005257366.3:c.2006T>G XP_005257423.1:p.Val669Gly
XM_005257367.4:c.1982T>G XP_005257424.1:p.Val661Gly
XM_005257368.4:c.1889T>G XP_005257425.1:p.Val630Gly
XM_005257369.4:c.1115T>G XP_005257426.1:p.Val372Gly
XM_005257370.4:c.1028T>G XP_005257427.1:p.Val343Gly
XM_005257371.4:c.941T>G XP_005257428.1:p.Val314Gly
NM_001203251.2:c.737T>G NP_001190180.1:p.Val246Gly
NM_001377265.1:c.2093T>G MANE Select NP_001364194.1:p.Val698Gly
NM_001377266.1:c.1802T>G NP_001364195.1:p.Val601Gly
NM_001377267.1:c.737T>G NP_001364196.1:p.Val246Gly
NM_001377268.1:c.650T>G NP_001364197.1:p.Val217Gly
NM_016834.5:c.743T>G NP_058518.1:p.Val248Gly
NM_016841.5:c.650T>G NP_058525.1:p.Val217Gly
NR_165166.1:n.748T>G
NM_001123066.4:c.1922T>G NP_001116538.2:p.Val641Gly
NM_001123067.4:c.830T>G NP_001116539.1:p.Val277Gly
NM_001203252.2:c.824T>G NP_001190181.1:p.Val275Gly
NM_005910.6:c.917T>G NP_005901.2:p.Val306Gly
NM_016835.5:c.1868T>G NP_058519.3:p.Val623Gly