Canonical Allele Identifier: CA500371235

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096000A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018634A>G , CM000679.2:g.46018634A>G	GRCh38
NC_000017.10:g.44096000A>G , CM000679.1:g.44096000A>G	GRCh37
NC_000017.9:g.41451847A>G	NCBI36
NG_007398.1:g.129224A>G
NG_007398.2:g.129172A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.927A>G	ENSP00000413056.2:p.Glu309=
ENST00000703922.1:c.927A>G	ENSP00000515557.1:p.Glu309=
ENST00000703923.1:c.840A>G	ENSP00000515558.1:p.Glu280=
ENST00000703924.1:c.927A>G	ENSP00000515559.1:p.Glu309=
ENST00000703978.1:c.1014A>G	ENSP00000515600.1:p.Glu338=
ENST00000703979.1:n.785A>G
ENST00000703980.1:n.240A>G
ENST00000703981.1:n.198A>G
ENST00000703982.1:n.432A>G
ENST00000262410.10:c.2190A>G MANE Select	ENSP00000262410.6:p.Glu730=
ENST00000344290.10:c.1899A>G	ENSP00000340820.6:p.Glu633=
ENST00000351559.10:c.1014A>G	ENSP00000303214.7:p.Glu338=
ENST00000535772.6:c.834A>G	ENSP00000443028.2:p.Glu278=
ENST00000680542.1:c.927A>G	ENSP00000505258.1:p.Glu309=
ENST00000680674.1:c.963A>G	ENSP00000505478.1:p.Glu321=
ENST00000262410.9:c.1965A>G	ENSP00000262410.5:p.Glu655=
ENST00000334239.12:c.747A>G	ENSP00000334886.8:p.Glu249=
ENST00000340799.9:c.927A>G	ENSP00000340438.5:p.Glu309=
ENST00000344290.9:c.2019A>G	ENSP00000340820.5:p.Glu673=
ENST00000351559.9:c.1014A>G	ENSP00000303214.7:p.Glu338=
ENST00000415613.6:c.2019A>G	ENSP00000410838.2:p.Glu673=
ENST00000420682.6:c.927A>G	ENSP00000413056.2:p.Glu309=
ENST00000431008.7:c.921A>G	ENSP00000389250.3:p.Glu307=
ENST00000446361.7:c.840A>G	ENSP00000408975.3:p.Glu280=
ENST00000535772.5:c.921A>G	ENSP00000443028.1:p.Glu307=
ENST00000570299.5:n.793A>G
ENST00000571987.5:c.1965A>G	ENSP00000458742.1:p.Glu655=
ENST00000574436.5:c.1014A>G	ENSP00000460965.1:p.Glu338=
ENST00000576518.1:n.6206A>G
NM_001123066.3:c.2019A>G	NP_001116538.2:p.Glu673=
NM_001123067.3:c.927A>G	NP_001116539.1:p.Glu309=
NM_001203251.1:c.834A>G	NP_001190180.1:p.Glu278=
NM_001203252.1:c.921A>G	NP_001190181.1:p.Glu307=
NM_005910.5:c.1014A>G	NP_005901.2:p.Glu338=
NM_016834.4:c.840A>G	NP_058518.1:p.Glu280=
NM_016835.4:c.1965A>G	NP_058519.3:p.Glu655=
NM_016841.4:c.747A>G	NP_058525.1:p.Glu249=
XM_005257362.3:c.2277A>G	XP_005257419.1:p.Glu759=
XM_005257364.3:c.2190A>G	XP_005257421.1:p.Glu730=
XM_005257365.3:c.2184A>G	XP_005257422.1:p.Glu728=
XM_005257366.2:c.2103A>G	XP_005257423.1:p.Glu701=
XM_005257367.3:c.2079A>G	XP_005257424.1:p.Glu693=
XM_005257368.3:c.1986A>G	XP_005257425.1:p.Glu662=
XM_005257369.3:c.1212A>G	XP_005257426.1:p.Glu404=
XM_005257370.3:c.1125A>G	XP_005257427.1:p.Glu375=
XM_005257371.3:c.1038A>G	XP_005257428.1:p.Glu346=
XM_005257362.4:c.2277A>G	XP_005257419.1:p.Glu759=
XM_005257364.4:c.2190A>G	XP_005257421.1:p.Glu730=
XM_005257365.4:c.2184A>G	XP_005257422.1:p.Glu728=
XM_005257366.3:c.2103A>G	XP_005257423.1:p.Glu701=
XM_005257367.4:c.2079A>G	XP_005257424.1:p.Glu693=
XM_005257368.4:c.1986A>G	XP_005257425.1:p.Glu662=
XM_005257369.4:c.1212A>G	XP_005257426.1:p.Glu404=
XM_005257370.4:c.1125A>G	XP_005257427.1:p.Glu375=
XM_005257371.4:c.1038A>G	XP_005257428.1:p.Glu346=
NM_001203251.2:c.834A>G	NP_001190180.1:p.Glu278=
NM_001377265.1:c.2190A>G MANE Select	NP_001364194.1:p.Glu730=
NM_001377266.1:c.1899A>G	NP_001364195.1:p.Glu633=
NM_001377267.1:c.771+4356A>G	NP_001364196.1:n.771+4356A>G
NM_001377268.1:c.747A>G	NP_001364197.1:p.Glu249=
NM_016834.5:c.840A>G	NP_058518.1:p.Glu280=
NM_016841.5:c.747A>G	NP_058525.1:p.Glu249=
NR_165166.1:n.845A>G
NM_001123066.4:c.2019A>G	NP_001116538.2:p.Glu673=
NM_001123067.4:c.927A>G	NP_001116539.1:p.Glu309=
NM_001203252.2:c.921A>G	NP_001190181.1:p.Glu307=
NM_005910.6:c.1014A>G	NP_005901.2:p.Glu338=
NM_016835.5:c.1965A>G	NP_058519.3:p.Glu655=