Canonical Allele Identifier: CA8617602
Gene: MAPT HGNC NCBI

Linked Data

ClinVar Variation Id: 257504
dbSNP Id: rs1800547

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45974480A>G , CM000679.2:g.45974480A>G GRCh38
NC_000017.10:g.44051846A>G , CM000679.1:g.44051846A>G GRCh37
NC_000017.9:g.41407682A>G NCBI36
NG_007398.1:g.85059A>G
NG_007398.2:g.85018A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262410.10:c.220+2535A>G MANE Select ENSP00000262410.6:n.220+2535A>G
ENST00000344290.10:c.220+2535A>G ENSP00000340820.6:n.220+2535A>G
ENST00000351559.10:c.307+9A>G ENSP00000303214.7:n.307+9A>G
ENST00000535772.6:c.220+2535A>G ENSP00000443028.2:n.220+2535A>G
ENST00000680542.1:c.220+2535A>G ENSP00000505258.1:n.220+2535A>G
ENST00000680674.1:c.134-3895A>G ENSP00000505478.1:n.134-3895A>G
ENST00000262410.9:c.307+9A>G ENSP00000262410.5:n.307+9A>G
ENST00000334239.12:c.134-3895A>G ENSP00000334886.8:n.134-3895A>G
ENST00000340799.9:c.220+2535A>G ENSP00000340438.5:n.220+2535A>G
ENST00000344290.9:c.307+9A>G ENSP00000340820.5:n.307+9A>G
ENST00000351559.9:c.307+9A>G ENSP00000303214.7:n.307+9A>G
ENST00000415613.6:n.307+9A>G ENSP00000410838.2:n.307+9A>G
ENST00000420682.6:n.220+2535A>G ENSP00000413056.2:n.220+2535A>G
ENST00000431008.7:n.307+9A>G ENSP00000389250.3:n.307+9A>G
ENST00000446361.7:c.134-3895A>G ENSP00000408975.3:n.134-3895A>G
ENST00000535772.5:c.307+9A>G ENSP00000443028.1:n.307+9A>G
ENST00000570299.5:n.262-3895A>G
ENST00000571311.5:c.*175+2535A>G ENSP00000460048.1:n.*175+2535A>G
ENST00000571987.5:n.307+9A>G ENSP00000458742.1:n.307+9A>G
ENST00000574436.5:n.307+9A>G ENSP00000460965.1:n.307+9A>G
ENST00000576518.1:n.1698A>G
NM_001123066.3:c.307+9A>G NP_001116538.2:n.307+9A>G
NM_001123067.3:c.220+2535A>G NP_001116539.1:n.220+2535A>G
NM_001203251.1:c.220+2535A>G NP_001190180.1:n.220+2535A>G
NM_001203252.1:c.307+9A>G NP_001190181.1:n.307+9A>G
NM_005910.5:c.307+9A>G NP_005901.2:n.307+9A>G
NM_016834.4:c.134-3895A>G NP_058518.1:n.134-3895A>G
NM_016835.4:c.307+9A>G NP_058519.3:n.307+9A>G
NM_016841.4:c.134-3895A>G NP_058525.1:n.134-3895A>G
XM_005257362.3:c.307+9A>G XP_005257419.1:n.307+9A>G
XM_005257364.3:c.220+2535A>G XP_005257421.1:n.220+2535A>G
XM_005257365.3:c.307+9A>G XP_005257422.1:n.307+9A>G
XM_005257366.2:c.134-3895A>G XP_005257423.1:n.134-3895A>G
XM_005257367.3:c.307+9A>G XP_005257424.1:n.307+9A>G
XM_005257368.3:c.307+9A>G XP_005257425.1:n.307+9A>G
XM_005257369.3:c.307+9A>G XP_005257426.1:n.307+9A>G
XM_005257370.3:c.220+2535A>G XP_005257427.1:n.220+2535A>G
XM_005257371.3:c.134-3895A>G XP_005257428.1:n.134-3895A>G
XM_005257362.4:c.307+9A>G XP_005257419.1:n.307+9A>G
XM_005257364.4:c.220+2535A>G XP_005257421.1:n.220+2535A>G
XM_005257365.4:c.307+9A>G XP_005257422.1:n.307+9A>G
XM_005257366.3:c.134-3895A>G XP_005257423.1:n.134-3895A>G
XM_005257367.4:c.307+9A>G XP_005257424.1:n.307+9A>G
XM_005257368.4:c.307+9A>G XP_005257425.1:n.307+9A>G
XM_005257369.4:c.307+9A>G XP_005257426.1:n.307+9A>G
XM_005257370.4:c.220+2535A>G XP_005257427.1:n.220+2535A>G
XM_005257371.4:c.134-3895A>G XP_005257428.1:n.134-3895A>G
NM_001203251.2:c.220+2535A>G NP_001190180.1:n.220+2535A>G
NM_001377265.1:c.220+2535A>G MANE Select NP_001364194.1:n.220+2535A>G
NM_001377266.1:c.220+2535A>G NP_001364195.1:n.220+2535A>G
NM_001377267.1:c.220+2535A>G NP_001364196.1:n.220+2535A>G
NM_001377268.1:c.134-3895A>G NP_001364197.1:n.134-3895A>G
NM_016834.5:c.134-3895A>G NP_058518.1:n.134-3895A>G
NM_016841.5:c.134-3895A>G NP_058525.1:n.134-3895A>G
NR_165166.1:n.370+2535A>G
NM_001123066.4:c.307+9A>G NP_001116538.2:n.307+9A>G
NM_001123067.4:c.220+2535A>G NP_001116539.1:n.220+2535A>G
NM_001203252.2:c.307+9A>G NP_001190181.1:n.307+9A>G
NM_005910.6:c.307+9A>G NP_005901.2:n.307+9A>G
NM_016835.5:c.307+9A>G NP_058519.3:n.307+9A>G