Canonical Allele Identifier: CA399983426

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44091613A>T (hg19) ; chr17:g.46014247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014247A>T , CM000679.2:g.46014247A>T	GRCh38
NC_000017.10:g.44091613A>T , CM000679.1:g.44091613A>T	GRCh37
NC_000017.9:g.41447450A>T	NCBI36
NG_007398.1:g.124827A>T
NG_007398.2:g.124785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.833A>T	ENSP00000413056.2:p.Gln278Leu
ENST00000703922.1:c.833A>T	ENSP00000515557.1:p.Gln278Leu
ENST00000703923.1:c.746A>T	ENSP00000515558.1:p.Gln249Leu
ENST00000703924.1:c.833A>T	ENSP00000515559.1:p.Gln278Leu
ENST00000703978.1:c.920A>T	ENSP00000515600.1:p.Gln307Leu
ENST00000703979.1:n.691A>T
ENST00000703980.1:n.146A>T
ENST00000703981.1:n.89A>T
ENST00000262410.10:c.2096A>T MANE Select	ENSP00000262410.6:p.Gln699Leu
ENST00000344290.10:c.1805A>T	ENSP00000340820.6:p.Gln602Leu
ENST00000351559.10:c.920A>T	ENSP00000303214.7:p.Gln307Leu
ENST00000535772.6:c.740A>T	ENSP00000443028.2:p.Gln247Leu
ENST00000680542.1:c.833A>T	ENSP00000505258.1:p.Gln278Leu
ENST00000680674.1:c.746A>T	ENSP00000505478.1:p.Gln249Leu
ENST00000262410.9:c.1871A>T	ENSP00000262410.5:p.Gln624Leu
ENST00000334239.12:c.653A>T	ENSP00000334886.8:p.Gln218Leu
ENST00000340799.9:c.833A>T	ENSP00000340438.5:p.Gln278Leu
ENST00000344290.9:c.1925A>T	ENSP00000340820.5:p.Gln642Leu
ENST00000351559.9:c.920A>T	ENSP00000303214.7:p.Gln307Leu
ENST00000415613.6:c.1925A>T	ENSP00000410838.2:p.Gln642Leu
ENST00000420682.6:c.833A>T	ENSP00000413056.2:p.Gln278Leu
ENST00000431008.7:c.827A>T	ENSP00000389250.3:p.Gln276Leu
ENST00000446361.7:c.746A>T	ENSP00000408975.3:p.Gln249Leu
ENST00000535772.5:c.827A>T	ENSP00000443028.1:p.Gln276Leu
ENST00000570299.5:n.777-4371A>T
ENST00000571987.5:c.1871A>T	ENSP00000458742.1:p.Gln624Leu
ENST00000574436.5:c.920A>T	ENSP00000460965.1:p.Gln307Leu
ENST00000576518.1:n.6112A>T
NM_001123066.3:c.1925A>T	NP_001116538.2:p.Gln642Leu
NM_001123067.3:c.833A>T	NP_001116539.1:p.Gln278Leu
NM_001203251.1:c.740A>T	NP_001190180.1:p.Gln247Leu
NM_001203252.1:c.827A>T	NP_001190181.1:p.Gln276Leu
NM_005910.5:c.920A>T	NP_005901.2:p.Gln307Leu
NM_016834.4:c.746A>T	NP_058518.1:p.Gln249Leu
NM_016835.4:c.1871A>T	NP_058519.3:p.Gln624Leu
NM_016841.4:c.653A>T	NP_058525.1:p.Gln218Leu
XM_005257362.3:c.2183A>T	XP_005257419.1:p.Gln728Leu
XM_005257364.3:c.2096A>T	XP_005257421.1:p.Gln699Leu
XM_005257365.3:c.2090A>T	XP_005257422.1:p.Gln697Leu
XM_005257366.2:c.2009A>T	XP_005257423.1:p.Gln670Leu
XM_005257367.3:c.1985A>T	XP_005257424.1:p.Gln662Leu
XM_005257368.3:c.1892A>T	XP_005257425.1:p.Gln631Leu
XM_005257369.3:c.1118A>T	XP_005257426.1:p.Gln373Leu
XM_005257370.3:c.1031A>T	XP_005257427.1:p.Gln344Leu
XM_005257371.3:c.944A>T	XP_005257428.1:p.Gln315Leu
XM_005257362.4:c.2183A>T	XP_005257419.1:p.Gln728Leu
XM_005257364.4:c.2096A>T	XP_005257421.1:p.Gln699Leu
XM_005257365.4:c.2090A>T	XP_005257422.1:p.Gln697Leu
XM_005257366.3:c.2009A>T	XP_005257423.1:p.Gln670Leu
XM_005257367.4:c.1985A>T	XP_005257424.1:p.Gln662Leu
XM_005257368.4:c.1892A>T	XP_005257425.1:p.Gln631Leu
XM_005257369.4:c.1118A>T	XP_005257426.1:p.Gln373Leu
XM_005257370.4:c.1031A>T	XP_005257427.1:p.Gln344Leu
XM_005257371.4:c.944A>T	XP_005257428.1:p.Gln315Leu
NM_001203251.2:c.740A>T	NP_001190180.1:p.Gln247Leu
NM_001377265.1:c.2096A>T MANE Select	NP_001364194.1:p.Gln699Leu
NM_001377266.1:c.1805A>T	NP_001364195.1:p.Gln602Leu
NM_001377267.1:c.740A>T	NP_001364196.1:p.Gln247Leu
NM_001377268.1:c.653A>T	NP_001364197.1:p.Gln218Leu
NM_016834.5:c.746A>T	NP_058518.1:p.Gln249Leu
NM_016841.5:c.653A>T	NP_058525.1:p.Gln218Leu
NR_165166.1:n.751A>T
NM_001123066.4:c.1925A>T	NP_001116538.2:p.Gln642Leu
NM_001123067.4:c.833A>T	NP_001116539.1:p.Gln278Leu
NM_001203252.2:c.827A>T	NP_001190181.1:p.Gln276Leu
NM_005910.6:c.920A>T	NP_005901.2:p.Gln307Leu
NM_016835.5:c.1871A>T	NP_058519.3:p.Gln624Leu