Canonical Allele Identifier: CA399983685

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096016C>A (hg19) ; chr17:g.46018650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018650C>A , CM000679.2:g.46018650C>A	GRCh38
NC_000017.10:g.44096016C>A , CM000679.1:g.44096016C>A	GRCh37
NC_000017.9:g.41451863C>A	NCBI36
NG_007398.1:g.129240C>A
NG_007398.2:g.129188C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.943C>A	ENSP00000413056.2:p.Leu315Ile
ENST00000703922.1:c.943C>A	ENSP00000515557.1:p.Leu315Ile
ENST00000703923.1:c.856C>A	ENSP00000515558.1:p.Leu286Ile
ENST00000703924.1:c.943C>A	ENSP00000515559.1:p.Leu315Ile
ENST00000703978.1:c.1030C>A	ENSP00000515600.1:p.Leu344Ile
ENST00000703979.1:n.801C>A
ENST00000703980.1:n.256C>A
ENST00000703981.1:n.214C>A
ENST00000703982.1:n.448C>A
ENST00000262410.10:c.2206C>A MANE Select	ENSP00000262410.6:p.Leu736Ile
ENST00000344290.10:c.1915C>A	ENSP00000340820.6:p.Leu639Ile
ENST00000351559.10:c.1030C>A	ENSP00000303214.7:p.Leu344Ile
ENST00000535772.6:c.850C>A	ENSP00000443028.2:p.Leu284Ile
ENST00000680542.1:c.943C>A	ENSP00000505258.1:p.Leu315Ile
ENST00000680674.1:c.979C>A	ENSP00000505478.1:p.Leu327Ile
ENST00000262410.9:c.1981C>A	ENSP00000262410.5:p.Leu661Ile
ENST00000334239.12:c.763C>A	ENSP00000334886.8:p.Leu255Ile
ENST00000340799.9:c.943C>A	ENSP00000340438.5:p.Leu315Ile
ENST00000344290.9:c.2035C>A	ENSP00000340820.5:p.Leu679Ile
ENST00000351559.9:c.1030C>A	ENSP00000303214.7:p.Leu344Ile
ENST00000415613.6:c.2035C>A	ENSP00000410838.2:p.Leu679Ile
ENST00000420682.6:c.943C>A	ENSP00000413056.2:p.Leu315Ile
ENST00000431008.7:c.937C>A	ENSP00000389250.3:p.Leu313Ile
ENST00000446361.7:c.856C>A	ENSP00000408975.3:p.Leu286Ile
ENST00000535772.5:c.937C>A	ENSP00000443028.1:p.Leu313Ile
ENST00000570299.5:n.809C>A
ENST00000571987.5:c.1981C>A	ENSP00000458742.1:p.Leu661Ile
ENST00000574436.5:c.1030C>A	ENSP00000460965.1:p.Leu344Ile
ENST00000576518.1:n.6222C>A
NM_001123066.3:c.2035C>A	NP_001116538.2:p.Leu679Ile
NM_001123067.3:c.943C>A	NP_001116539.1:p.Leu315Ile
NM_001203251.1:c.850C>A	NP_001190180.1:p.Leu284Ile
NM_001203252.1:c.937C>A	NP_001190181.1:p.Leu313Ile
NM_005910.5:c.1030C>A	NP_005901.2:p.Leu344Ile
NM_016834.4:c.856C>A	NP_058518.1:p.Leu286Ile
NM_016835.4:c.1981C>A	NP_058519.3:p.Leu661Ile
NM_016841.4:c.763C>A	NP_058525.1:p.Leu255Ile
XM_005257362.3:c.2293C>A	XP_005257419.1:p.Leu765Ile
XM_005257364.3:c.2206C>A	XP_005257421.1:p.Leu736Ile
XM_005257365.3:c.2200C>A	XP_005257422.1:p.Leu734Ile
XM_005257366.2:c.2119C>A	XP_005257423.1:p.Leu707Ile
XM_005257367.3:c.2095C>A	XP_005257424.1:p.Leu699Ile
XM_005257368.3:c.2002C>A	XP_005257425.1:p.Leu668Ile
XM_005257369.3:c.1228C>A	XP_005257426.1:p.Leu410Ile
XM_005257370.3:c.1141C>A	XP_005257427.1:p.Leu381Ile
XM_005257371.3:c.1054C>A	XP_005257428.1:p.Leu352Ile
XM_005257362.4:c.2293C>A	XP_005257419.1:p.Leu765Ile
XM_005257364.4:c.2206C>A	XP_005257421.1:p.Leu736Ile
XM_005257365.4:c.2200C>A	XP_005257422.1:p.Leu734Ile
XM_005257366.3:c.2119C>A	XP_005257423.1:p.Leu707Ile
XM_005257367.4:c.2095C>A	XP_005257424.1:p.Leu699Ile
XM_005257368.4:c.2002C>A	XP_005257425.1:p.Leu668Ile
XM_005257369.4:c.1228C>A	XP_005257426.1:p.Leu410Ile
XM_005257370.4:c.1141C>A	XP_005257427.1:p.Leu381Ile
XM_005257371.4:c.1054C>A	XP_005257428.1:p.Leu352Ile
NM_001203251.2:c.850C>A	NP_001190180.1:p.Leu284Ile
NM_001377265.1:c.2206C>A MANE Select	NP_001364194.1:p.Leu736Ile
NM_001377266.1:c.1915C>A	NP_001364195.1:p.Leu639Ile
NM_001377267.1:c.771+4372C>A	NP_001364196.1:n.771+4372C>A
NM_001377268.1:c.763C>A	NP_001364197.1:p.Leu255Ile
NM_016834.5:c.856C>A	NP_058518.1:p.Leu286Ile
NM_016841.5:c.763C>A	NP_058525.1:p.Leu255Ile
NR_165166.1:n.861C>A
NM_001123066.4:c.2035C>A	NP_001116538.2:p.Leu679Ile
NM_001123067.4:c.943C>A	NP_001116539.1:p.Leu315Ile
NM_001203252.2:c.937C>A	NP_001190181.1:p.Leu313Ile
NM_005910.6:c.1030C>A	NP_005901.2:p.Leu344Ile
NM_016835.5:c.1981C>A	NP_058519.3:p.Leu661Ile