Canonical Allele Identifier: CA500371388

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44101333C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023967C>T , CM000679.2:g.46023967C>T	GRCh38
NC_000017.10:g.44101333C>T , CM000679.1:g.44101333C>T	GRCh37
NC_000017.9:g.41457178C>T	NCBI36
NG_007398.1:g.134555C>T
NG_007398.2:g.134505C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1035C>T	ENSP00000413056.2:p.His345=
ENST00000703922.1:c.1035C>T	ENSP00000515557.1:p.His345=
ENST00000703923.1:c.948C>T	ENSP00000515558.1:p.His316=
ENST00000703924.1:c.1035C>T	ENSP00000515559.1:p.His345=
ENST00000703978.1:c.1122C>T	ENSP00000515600.1:p.His374=
ENST00000703980.1:n.348C>T
ENST00000703981.1:n.306C>T
ENST00000703982.1:n.540C>T
ENST00000262410.10:c.2298C>T MANE Select	ENSP00000262410.6:p.His766=
ENST00000344290.10:c.2007C>T	ENSP00000340820.6:p.His669=
ENST00000351559.10:c.1122C>T	ENSP00000303214.7:p.His374=
ENST00000535772.6:c.942C>T	ENSP00000443028.2:p.His314=
ENST00000680542.1:c.1035C>T	ENSP00000505258.1:p.His345=
ENST00000680674.1:c.1071C>T	ENSP00000505478.1:p.His357=
ENST00000262410.9:c.2073C>T	ENSP00000262410.5:p.His691=
ENST00000334239.12:c.855C>T	ENSP00000334886.8:p.His285=
ENST00000340799.9:c.1035C>T	ENSP00000340438.5:p.His345=
ENST00000344290.9:c.2127C>T	ENSP00000340820.5:p.His709=
ENST00000351559.9:c.1122C>T	ENSP00000303214.7:p.His374=
ENST00000415613.6:c.2127C>T	ENSP00000410838.2:p.His709=
ENST00000420682.6:c.1035C>T	ENSP00000413056.2:p.His345=
ENST00000431008.7:c.1029C>T	ENSP00000389250.3:p.His343=
ENST00000446361.7:c.948C>T	ENSP00000408975.3:p.His316=
ENST00000535772.5:c.1029C>T	ENSP00000443028.1:p.His343=
ENST00000571987.5:c.2073C>T	ENSP00000458742.1:p.His691=
ENST00000574436.5:c.1122C>T	ENSP00000460965.1:p.His374=
ENST00000576518.1:n.6314C>T
NM_001123066.3:c.2127C>T	NP_001116538.2:p.His709=
NM_001123067.3:c.1035C>T	NP_001116539.1:p.His345=
NM_001203251.1:c.942C>T	NP_001190180.1:p.His314=
NM_001203252.1:c.1029C>T	NP_001190181.1:p.His343=
NM_005910.5:c.1122C>T	NP_005901.2:p.His374=
NM_016834.4:c.948C>T	NP_058518.1:p.His316=
NM_016835.4:c.2073C>T	NP_058519.3:p.His691=
NM_016841.4:c.855C>T	NP_058525.1:p.His285=
XM_005257362.3:c.2385C>T	XP_005257419.1:p.His795=
XM_005257364.3:c.2298C>T	XP_005257421.1:p.His766=
XM_005257365.3:c.2292C>T	XP_005257422.1:p.His764=
XM_005257366.2:c.2211C>T	XP_005257423.1:p.His737=
XM_005257367.3:c.2187C>T	XP_005257424.1:p.His729=
XM_005257368.3:c.2094C>T	XP_005257425.1:p.His698=
XM_005257369.3:c.1320C>T	XP_005257426.1:p.His440=
XM_005257370.3:c.1233C>T	XP_005257427.1:p.His411=
XM_005257371.3:c.1146C>T	XP_005257428.1:p.His382=
XM_005257362.4:c.2385C>T	XP_005257419.1:p.His795=
XM_005257364.4:c.2298C>T	XP_005257421.1:p.His766=
XM_005257365.4:c.2292C>T	XP_005257422.1:p.His764=
XM_005257366.3:c.2211C>T	XP_005257423.1:p.His737=
XM_005257367.4:c.2187C>T	XP_005257424.1:p.His729=
XM_005257368.4:c.2094C>T	XP_005257425.1:p.His698=
XM_005257369.4:c.1320C>T	XP_005257426.1:p.His440=
XM_005257370.4:c.1233C>T	XP_005257427.1:p.His411=
XM_005257371.4:c.1146C>T	XP_005257428.1:p.His382=
NM_001203251.2:c.942C>T	NP_001190180.1:p.His314=
NM_001377265.1:c.2298C>T MANE Select	NP_001364194.1:p.His766=
NM_001377266.1:c.2007C>T	NP_001364195.1:p.His669=
NM_001377267.1:c.772-1150C>T	NP_001364196.1:n.772-1150C>T
NM_001377268.1:c.855C>T	NP_001364197.1:p.His285=
NM_016834.5:c.948C>T	NP_058518.1:p.His316=
NM_016841.5:c.855C>T	NP_058525.1:p.His285=
NR_165166.1:n.953C>T
NM_001123066.4:c.2127C>T	NP_001116538.2:p.His709=
NM_001123067.4:c.1035C>T	NP_001116539.1:p.His345=
NM_001203252.2:c.1029C>T	NP_001190181.1:p.His343=
NM_005910.6:c.1122C>T	NP_005901.2:p.His374=
NM_016835.5:c.2073C>T	NP_058519.3:p.His691=