Canonical Allele Identifier: CA500371175

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44091636C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014270C>T , CM000679.2:g.46014270C>T	GRCh38
NC_000017.10:g.44091636C>T , CM000679.1:g.44091636C>T	GRCh37
NC_000017.9:g.41447473C>T	NCBI36
NG_007398.1:g.124850C>T
NG_007398.2:g.124808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.856C>T	ENSP00000413056.2:p.Leu286=
ENST00000703922.1:c.856C>T	ENSP00000515557.1:p.Leu286=
ENST00000703923.1:c.769C>T	ENSP00000515558.1:p.Leu257=
ENST00000703924.1:c.856C>T	ENSP00000515559.1:p.Leu286=
ENST00000703978.1:c.943C>T	ENSP00000515600.1:p.Leu315=
ENST00000703979.1:n.714C>T
ENST00000703980.1:n.169C>T
ENST00000703981.1:n.112C>T
ENST00000262410.10:c.2119C>T MANE Select	ENSP00000262410.6:p.Leu707=
ENST00000344290.10:c.1828C>T	ENSP00000340820.6:p.Leu610=
ENST00000351559.10:c.943C>T	ENSP00000303214.7:p.Leu315=
ENST00000535772.6:c.763C>T	ENSP00000443028.2:p.Leu255=
ENST00000680542.1:c.856C>T	ENSP00000505258.1:p.Leu286=
ENST00000680674.1:c.769C>T	ENSP00000505478.1:p.Leu257=
ENST00000262410.9:c.1894C>T	ENSP00000262410.5:p.Leu632=
ENST00000334239.12:c.676C>T	ENSP00000334886.8:p.Leu226=
ENST00000340799.9:c.856C>T	ENSP00000340438.5:p.Leu286=
ENST00000344290.9:c.1948C>T	ENSP00000340820.5:p.Leu650=
ENST00000351559.9:c.943C>T	ENSP00000303214.7:p.Leu315=
ENST00000415613.6:c.1948C>T	ENSP00000410838.2:p.Leu650=
ENST00000420682.6:c.856C>T	ENSP00000413056.2:p.Leu286=
ENST00000431008.7:c.850C>T	ENSP00000389250.3:p.Leu284=
ENST00000446361.7:c.769C>T	ENSP00000408975.3:p.Leu257=
ENST00000535772.5:c.850C>T	ENSP00000443028.1:p.Leu284=
ENST00000570299.5:n.777-4348C>T
ENST00000571987.5:c.1894C>T	ENSP00000458742.1:p.Leu632=
ENST00000574436.5:c.943C>T	ENSP00000460965.1:p.Leu315=
ENST00000576518.1:n.6135C>T
NM_001123066.3:c.1948C>T	NP_001116538.2:p.Leu650=
NM_001123067.3:c.856C>T	NP_001116539.1:p.Leu286=
NM_001203251.1:c.763C>T	NP_001190180.1:p.Leu255=
NM_001203252.1:c.850C>T	NP_001190181.1:p.Leu284=
NM_005910.5:c.943C>T	NP_005901.2:p.Leu315=
NM_016834.4:c.769C>T	NP_058518.1:p.Leu257=
NM_016835.4:c.1894C>T	NP_058519.3:p.Leu632=
NM_016841.4:c.676C>T	NP_058525.1:p.Leu226=
XM_005257362.3:c.2206C>T	XP_005257419.1:p.Leu736=
XM_005257364.3:c.2119C>T	XP_005257421.1:p.Leu707=
XM_005257365.3:c.2113C>T	XP_005257422.1:p.Leu705=
XM_005257366.2:c.2032C>T	XP_005257423.1:p.Leu678=
XM_005257367.3:c.2008C>T	XP_005257424.1:p.Leu670=
XM_005257368.3:c.1915C>T	XP_005257425.1:p.Leu639=
XM_005257369.3:c.1141C>T	XP_005257426.1:p.Leu381=
XM_005257370.3:c.1054C>T	XP_005257427.1:p.Leu352=
XM_005257371.3:c.967C>T	XP_005257428.1:p.Leu323=
XM_005257362.4:c.2206C>T	XP_005257419.1:p.Leu736=
XM_005257364.4:c.2119C>T	XP_005257421.1:p.Leu707=
XM_005257365.4:c.2113C>T	XP_005257422.1:p.Leu705=
XM_005257366.3:c.2032C>T	XP_005257423.1:p.Leu678=
XM_005257367.4:c.2008C>T	XP_005257424.1:p.Leu670=
XM_005257368.4:c.1915C>T	XP_005257425.1:p.Leu639=
XM_005257369.4:c.1141C>T	XP_005257426.1:p.Leu381=
XM_005257370.4:c.1054C>T	XP_005257427.1:p.Leu352=
XM_005257371.4:c.967C>T	XP_005257428.1:p.Leu323=
NM_001203251.2:c.763C>T	NP_001190180.1:p.Leu255=
NM_001377265.1:c.2119C>T MANE Select	NP_001364194.1:p.Leu707=
NM_001377266.1:c.1828C>T	NP_001364195.1:p.Leu610=
NM_001377267.1:c.763C>T	NP_001364196.1:p.Leu255=
NM_001377268.1:c.676C>T	NP_001364197.1:p.Leu226=
NM_016834.5:c.769C>T	NP_058518.1:p.Leu257=
NM_016841.5:c.676C>T	NP_058525.1:p.Leu226=
NR_165166.1:n.774C>T
NM_001123066.4:c.1948C>T	NP_001116538.2:p.Leu650=
NM_001123067.4:c.856C>T	NP_001116539.1:p.Leu286=
NM_001203252.2:c.850C>T	NP_001190181.1:p.Leu284=
NM_005910.6:c.943C>T	NP_005901.2:p.Leu315=
NM_016835.5:c.1894C>T	NP_058519.3:p.Leu632=