Canonical Allele Identifier: CA399983641

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44095998G>A (hg19) ; chr17:g.46018632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018632G>A , CM000679.2:g.46018632G>A	GRCh38
NC_000017.10:g.44095998G>A , CM000679.1:g.44095998G>A	GRCh37
NC_000017.9:g.41451845G>A	NCBI36
NG_007398.1:g.129222G>A
NG_007398.2:g.129170G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.925G>A	ENSP00000413056.2:p.Glu309Lys
ENST00000703922.1:c.925G>A	ENSP00000515557.1:p.Glu309Lys
ENST00000703923.1:c.838G>A	ENSP00000515558.1:p.Glu280Lys
ENST00000703924.1:c.925G>A	ENSP00000515559.1:p.Glu309Lys
ENST00000703978.1:c.1012G>A	ENSP00000515600.1:p.Glu338Lys
ENST00000703979.1:n.783G>A
ENST00000703980.1:n.238G>A
ENST00000703981.1:n.196G>A
ENST00000703982.1:n.430G>A
ENST00000262410.10:c.2188G>A MANE Select	ENSP00000262410.6:p.Glu730Lys
ENST00000344290.10:c.1897G>A	ENSP00000340820.6:p.Glu633Lys
ENST00000351559.10:c.1012G>A	ENSP00000303214.7:p.Glu338Lys
ENST00000535772.6:c.832G>A	ENSP00000443028.2:p.Glu278Lys
ENST00000680542.1:c.925G>A	ENSP00000505258.1:p.Glu309Lys
ENST00000680674.1:c.961G>A	ENSP00000505478.1:p.Glu321Lys
ENST00000262410.9:c.1963G>A	ENSP00000262410.5:p.Glu655Lys
ENST00000334239.12:c.745G>A	ENSP00000334886.8:p.Glu249Lys
ENST00000340799.9:c.925G>A	ENSP00000340438.5:p.Glu309Lys
ENST00000344290.9:c.2017G>A	ENSP00000340820.5:p.Glu673Lys
ENST00000351559.9:c.1012G>A	ENSP00000303214.7:p.Glu338Lys
ENST00000415613.6:c.2017G>A	ENSP00000410838.2:p.Glu673Lys
ENST00000420682.6:c.925G>A	ENSP00000413056.2:p.Glu309Lys
ENST00000431008.7:c.919G>A	ENSP00000389250.3:p.Glu307Lys
ENST00000446361.7:c.838G>A	ENSP00000408975.3:p.Glu280Lys
ENST00000535772.5:c.919G>A	ENSP00000443028.1:p.Glu307Lys
ENST00000570299.5:n.791G>A
ENST00000571987.5:c.1963G>A	ENSP00000458742.1:p.Glu655Lys
ENST00000574436.5:c.1012G>A	ENSP00000460965.1:p.Glu338Lys
ENST00000576518.1:n.6204G>A
NM_001123066.3:c.2017G>A	NP_001116538.2:p.Glu673Lys
NM_001123067.3:c.925G>A	NP_001116539.1:p.Glu309Lys
NM_001203251.1:c.832G>A	NP_001190180.1:p.Glu278Lys
NM_001203252.1:c.919G>A	NP_001190181.1:p.Glu307Lys
NM_005910.5:c.1012G>A	NP_005901.2:p.Glu338Lys
NM_016834.4:c.838G>A	NP_058518.1:p.Glu280Lys
NM_016835.4:c.1963G>A	NP_058519.3:p.Glu655Lys
NM_016841.4:c.745G>A	NP_058525.1:p.Glu249Lys
XM_005257362.3:c.2275G>A	XP_005257419.1:p.Glu759Lys
XM_005257364.3:c.2188G>A	XP_005257421.1:p.Glu730Lys
XM_005257365.3:c.2182G>A	XP_005257422.1:p.Glu728Lys
XM_005257366.2:c.2101G>A	XP_005257423.1:p.Glu701Lys
XM_005257367.3:c.2077G>A	XP_005257424.1:p.Glu693Lys
XM_005257368.3:c.1984G>A	XP_005257425.1:p.Glu662Lys
XM_005257369.3:c.1210G>A	XP_005257426.1:p.Glu404Lys
XM_005257370.3:c.1123G>A	XP_005257427.1:p.Glu375Lys
XM_005257371.3:c.1036G>A	XP_005257428.1:p.Glu346Lys
XM_005257362.4:c.2275G>A	XP_005257419.1:p.Glu759Lys
XM_005257364.4:c.2188G>A	XP_005257421.1:p.Glu730Lys
XM_005257365.4:c.2182G>A	XP_005257422.1:p.Glu728Lys
XM_005257366.3:c.2101G>A	XP_005257423.1:p.Glu701Lys
XM_005257367.4:c.2077G>A	XP_005257424.1:p.Glu693Lys
XM_005257368.4:c.1984G>A	XP_005257425.1:p.Glu662Lys
XM_005257369.4:c.1210G>A	XP_005257426.1:p.Glu404Lys
XM_005257370.4:c.1123G>A	XP_005257427.1:p.Glu375Lys
XM_005257371.4:c.1036G>A	XP_005257428.1:p.Glu346Lys
NM_001203251.2:c.832G>A	NP_001190180.1:p.Glu278Lys
NM_001377265.1:c.2188G>A MANE Select	NP_001364194.1:p.Glu730Lys
NM_001377266.1:c.1897G>A	NP_001364195.1:p.Glu633Lys
NM_001377267.1:c.771+4354G>A	NP_001364196.1:n.771+4354G>A
NM_001377268.1:c.745G>A	NP_001364197.1:p.Glu249Lys
NM_016834.5:c.838G>A	NP_058518.1:p.Glu280Lys
NM_016841.5:c.745G>A	NP_058525.1:p.Glu249Lys
NR_165166.1:n.843G>A
NM_001123066.4:c.2017G>A	NP_001116538.2:p.Glu673Lys
NM_001123067.4:c.925G>A	NP_001116539.1:p.Glu309Lys
NM_001203252.2:c.919G>A	NP_001190181.1:p.Glu307Lys
NM_005910.6:c.1012G>A	NP_005901.2:p.Glu338Lys
NM_016835.5:c.1963G>A	NP_058519.3:p.Glu655Lys