Canonical Allele Identifier: CA399983423

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44091612C>G (hg19) ; chr17:g.46014246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014246C>G , CM000679.2:g.46014246C>G	GRCh38
NC_000017.10:g.44091612C>G , CM000679.1:g.44091612C>G	GRCh37
NC_000017.9:g.41447449C>G	NCBI36
NG_007398.1:g.124826C>G
NG_007398.2:g.124784C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.832C>G	ENSP00000413056.2:p.Gln278Glu
ENST00000703922.1:c.832C>G	ENSP00000515557.1:p.Gln278Glu
ENST00000703923.1:c.745C>G	ENSP00000515558.1:p.Gln249Glu
ENST00000703924.1:c.832C>G	ENSP00000515559.1:p.Gln278Glu
ENST00000703978.1:c.919C>G	ENSP00000515600.1:p.Gln307Glu
ENST00000703979.1:n.690C>G
ENST00000703980.1:n.145C>G
ENST00000703981.1:n.88C>G
ENST00000262410.10:c.2095C>G MANE Select	ENSP00000262410.6:p.Gln699Glu
ENST00000344290.10:c.1804C>G	ENSP00000340820.6:p.Gln602Glu
ENST00000351559.10:c.919C>G	ENSP00000303214.7:p.Gln307Glu
ENST00000535772.6:c.739C>G	ENSP00000443028.2:p.Gln247Glu
ENST00000680542.1:c.832C>G	ENSP00000505258.1:p.Gln278Glu
ENST00000680674.1:c.745C>G	ENSP00000505478.1:p.Gln249Glu
ENST00000262410.9:c.1870C>G	ENSP00000262410.5:p.Gln624Glu
ENST00000334239.12:c.652C>G	ENSP00000334886.8:p.Gln218Glu
ENST00000340799.9:c.832C>G	ENSP00000340438.5:p.Gln278Glu
ENST00000344290.9:c.1924C>G	ENSP00000340820.5:p.Gln642Glu
ENST00000351559.9:c.919C>G	ENSP00000303214.7:p.Gln307Glu
ENST00000415613.6:c.1924C>G	ENSP00000410838.2:p.Gln642Glu
ENST00000420682.6:c.832C>G	ENSP00000413056.2:p.Gln278Glu
ENST00000431008.7:c.826C>G	ENSP00000389250.3:p.Gln276Glu
ENST00000446361.7:c.745C>G	ENSP00000408975.3:p.Gln249Glu
ENST00000535772.5:c.826C>G	ENSP00000443028.1:p.Gln276Glu
ENST00000570299.5:n.777-4372C>G
ENST00000571987.5:c.1870C>G	ENSP00000458742.1:p.Gln624Glu
ENST00000574436.5:c.919C>G	ENSP00000460965.1:p.Gln307Glu
ENST00000576518.1:n.6111C>G
NM_001123066.3:c.1924C>G	NP_001116538.2:p.Gln642Glu
NM_001123067.3:c.832C>G	NP_001116539.1:p.Gln278Glu
NM_001203251.1:c.739C>G	NP_001190180.1:p.Gln247Glu
NM_001203252.1:c.826C>G	NP_001190181.1:p.Gln276Glu
NM_005910.5:c.919C>G	NP_005901.2:p.Gln307Glu
NM_016834.4:c.745C>G	NP_058518.1:p.Gln249Glu
NM_016835.4:c.1870C>G	NP_058519.3:p.Gln624Glu
NM_016841.4:c.652C>G	NP_058525.1:p.Gln218Glu
XM_005257362.3:c.2182C>G	XP_005257419.1:p.Gln728Glu
XM_005257364.3:c.2095C>G	XP_005257421.1:p.Gln699Glu
XM_005257365.3:c.2089C>G	XP_005257422.1:p.Gln697Glu
XM_005257366.2:c.2008C>G	XP_005257423.1:p.Gln670Glu
XM_005257367.3:c.1984C>G	XP_005257424.1:p.Gln662Glu
XM_005257368.3:c.1891C>G	XP_005257425.1:p.Gln631Glu
XM_005257369.3:c.1117C>G	XP_005257426.1:p.Gln373Glu
XM_005257370.3:c.1030C>G	XP_005257427.1:p.Gln344Glu
XM_005257371.3:c.943C>G	XP_005257428.1:p.Gln315Glu
XM_005257362.4:c.2182C>G	XP_005257419.1:p.Gln728Glu
XM_005257364.4:c.2095C>G	XP_005257421.1:p.Gln699Glu
XM_005257365.4:c.2089C>G	XP_005257422.1:p.Gln697Glu
XM_005257366.3:c.2008C>G	XP_005257423.1:p.Gln670Glu
XM_005257367.4:c.1984C>G	XP_005257424.1:p.Gln662Glu
XM_005257368.4:c.1891C>G	XP_005257425.1:p.Gln631Glu
XM_005257369.4:c.1117C>G	XP_005257426.1:p.Gln373Glu
XM_005257370.4:c.1030C>G	XP_005257427.1:p.Gln344Glu
XM_005257371.4:c.943C>G	XP_005257428.1:p.Gln315Glu
NM_001203251.2:c.739C>G	NP_001190180.1:p.Gln247Glu
NM_001377265.1:c.2095C>G MANE Select	NP_001364194.1:p.Gln699Glu
NM_001377266.1:c.1804C>G	NP_001364195.1:p.Gln602Glu
NM_001377267.1:c.739C>G	NP_001364196.1:p.Gln247Glu
NM_001377268.1:c.652C>G	NP_001364197.1:p.Gln218Glu
NM_016834.5:c.745C>G	NP_058518.1:p.Gln249Glu
NM_016841.5:c.652C>G	NP_058525.1:p.Gln218Glu
NR_165166.1:n.750C>G
NM_001123066.4:c.1924C>G	NP_001116538.2:p.Gln642Glu
NM_001123067.4:c.832C>G	NP_001116539.1:p.Gln278Glu
NM_001203252.2:c.826C>G	NP_001190181.1:p.Gln276Glu
NM_005910.6:c.919C>G	NP_005901.2:p.Gln307Glu
NM_016835.5:c.1870C>G	NP_058519.3:p.Gln624Glu