Canonical Allele Identifier: CA500371233

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44095997G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018631G>T , CM000679.2:g.46018631G>T	GRCh38
NC_000017.10:g.44095997G>T , CM000679.1:g.44095997G>T	GRCh37
NC_000017.9:g.41451844G>T	NCBI36
NG_007398.1:g.129221G>T
NG_007398.2:g.129169G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.924G>T	ENSP00000413056.2:p.Val308=
ENST00000703922.1:c.924G>T	ENSP00000515557.1:p.Val308=
ENST00000703923.1:c.837G>T	ENSP00000515558.1:p.Val279=
ENST00000703924.1:c.924G>T	ENSP00000515559.1:p.Val308=
ENST00000703978.1:c.1011G>T	ENSP00000515600.1:p.Val337=
ENST00000703979.1:n.782G>T
ENST00000703980.1:n.237G>T
ENST00000703981.1:n.195G>T
ENST00000703982.1:n.429G>T
ENST00000262410.10:c.2187G>T MANE Select	ENSP00000262410.6:p.Val729=
ENST00000344290.10:c.1896G>T	ENSP00000340820.6:p.Val632=
ENST00000351559.10:c.1011G>T	ENSP00000303214.7:p.Val337=
ENST00000535772.6:c.831G>T	ENSP00000443028.2:p.Val277=
ENST00000680542.1:c.924G>T	ENSP00000505258.1:p.Val308=
ENST00000680674.1:c.960G>T	ENSP00000505478.1:p.Val320=
ENST00000262410.9:c.1962G>T	ENSP00000262410.5:p.Val654=
ENST00000334239.12:c.744G>T	ENSP00000334886.8:p.Val248=
ENST00000340799.9:c.924G>T	ENSP00000340438.5:p.Val308=
ENST00000344290.9:c.2016G>T	ENSP00000340820.5:p.Val672=
ENST00000351559.9:c.1011G>T	ENSP00000303214.7:p.Val337=
ENST00000415613.6:c.2016G>T	ENSP00000410838.2:p.Val672=
ENST00000420682.6:c.924G>T	ENSP00000413056.2:p.Val308=
ENST00000431008.7:c.918G>T	ENSP00000389250.3:p.Val306=
ENST00000446361.7:c.837G>T	ENSP00000408975.3:p.Val279=
ENST00000535772.5:c.918G>T	ENSP00000443028.1:p.Val306=
ENST00000570299.5:n.790G>T
ENST00000571987.5:c.1962G>T	ENSP00000458742.1:p.Val654=
ENST00000574436.5:c.1011G>T	ENSP00000460965.1:p.Val337=
ENST00000576518.1:n.6203G>T
NM_001123066.3:c.2016G>T	NP_001116538.2:p.Val672=
NM_001123067.3:c.924G>T	NP_001116539.1:p.Val308=
NM_001203251.1:c.831G>T	NP_001190180.1:p.Val277=
NM_001203252.1:c.918G>T	NP_001190181.1:p.Val306=
NM_005910.5:c.1011G>T	NP_005901.2:p.Val337=
NM_016834.4:c.837G>T	NP_058518.1:p.Val279=
NM_016835.4:c.1962G>T	NP_058519.3:p.Val654=
NM_016841.4:c.744G>T	NP_058525.1:p.Val248=
XM_005257362.3:c.2274G>T	XP_005257419.1:p.Val758=
XM_005257364.3:c.2187G>T	XP_005257421.1:p.Val729=
XM_005257365.3:c.2181G>T	XP_005257422.1:p.Val727=
XM_005257366.2:c.2100G>T	XP_005257423.1:p.Val700=
XM_005257367.3:c.2076G>T	XP_005257424.1:p.Val692=
XM_005257368.3:c.1983G>T	XP_005257425.1:p.Val661=
XM_005257369.3:c.1209G>T	XP_005257426.1:p.Val403=
XM_005257370.3:c.1122G>T	XP_005257427.1:p.Val374=
XM_005257371.3:c.1035G>T	XP_005257428.1:p.Val345=
XM_005257362.4:c.2274G>T	XP_005257419.1:p.Val758=
XM_005257364.4:c.2187G>T	XP_005257421.1:p.Val729=
XM_005257365.4:c.2181G>T	XP_005257422.1:p.Val727=
XM_005257366.3:c.2100G>T	XP_005257423.1:p.Val700=
XM_005257367.4:c.2076G>T	XP_005257424.1:p.Val692=
XM_005257368.4:c.1983G>T	XP_005257425.1:p.Val661=
XM_005257369.4:c.1209G>T	XP_005257426.1:p.Val403=
XM_005257370.4:c.1122G>T	XP_005257427.1:p.Val374=
XM_005257371.4:c.1035G>T	XP_005257428.1:p.Val345=
NM_001203251.2:c.831G>T	NP_001190180.1:p.Val277=
NM_001377265.1:c.2187G>T MANE Select	NP_001364194.1:p.Val729=
NM_001377266.1:c.1896G>T	NP_001364195.1:p.Val632=
NM_001377267.1:c.771+4353G>T	NP_001364196.1:n.771+4353G>T
NM_001377268.1:c.744G>T	NP_001364197.1:p.Val248=
NM_016834.5:c.837G>T	NP_058518.1:p.Val279=
NM_016841.5:c.744G>T	NP_058525.1:p.Val248=
NR_165166.1:n.842G>T
NM_001123066.4:c.2016G>T	NP_001116538.2:p.Val672=
NM_001123067.4:c.924G>T	NP_001116539.1:p.Val308=
NM_001203252.2:c.918G>T	NP_001190181.1:p.Val306=
NM_005910.6:c.1011G>T	NP_005901.2:p.Val337=
NM_016835.5:c.1962G>T	NP_058519.3:p.Val654=