Canonical Allele Identifier: CA399984301

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44101341C>T (hg19) ; chr17:g.46023975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023975C>T , CM000679.2:g.46023975C>T	GRCh38
NC_000017.10:g.44101341C>T , CM000679.1:g.44101341C>T	GRCh37
NC_000017.9:g.41457186C>T	NCBI36
NG_007398.1:g.134563C>T
NG_007398.2:g.134513C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1043C>T	ENSP00000413056.2:p.Thr348Ile
ENST00000703922.1:c.1043C>T	ENSP00000515557.1:p.Thr348Ile
ENST00000703923.1:c.956C>T	ENSP00000515558.1:p.Thr319Ile
ENST00000703924.1:c.1043C>T	ENSP00000515559.1:p.Thr348Ile
ENST00000703978.1:c.1130C>T	ENSP00000515600.1:p.Thr377Ile
ENST00000703980.1:n.356C>T
ENST00000703981.1:n.314C>T
ENST00000703982.1:n.548C>T
ENST00000262410.10:c.2306C>T MANE Select	ENSP00000262410.6:p.Thr769Ile
ENST00000344290.10:c.2015C>T	ENSP00000340820.6:p.Thr672Ile
ENST00000351559.10:c.1130C>T	ENSP00000303214.7:p.Thr377Ile
ENST00000535772.6:c.950C>T	ENSP00000443028.2:p.Thr317Ile
ENST00000680542.1:c.1043C>T	ENSP00000505258.1:p.Thr348Ile
ENST00000680674.1:c.1079C>T	ENSP00000505478.1:p.Thr360Ile
ENST00000262410.9:c.2081C>T	ENSP00000262410.5:p.Thr694Ile
ENST00000334239.12:c.863C>T	ENSP00000334886.8:p.Thr288Ile
ENST00000340799.9:c.1043C>T	ENSP00000340438.5:p.Thr348Ile
ENST00000344290.9:c.2135C>T	ENSP00000340820.5:p.Thr712Ile
ENST00000351559.9:c.1130C>T	ENSP00000303214.7:p.Thr377Ile
ENST00000415613.6:c.2135C>T	ENSP00000410838.2:p.Thr712Ile
ENST00000420682.6:c.1043C>T	ENSP00000413056.2:p.Thr348Ile
ENST00000431008.7:c.1037C>T	ENSP00000389250.3:p.Thr346Ile
ENST00000446361.7:c.956C>T	ENSP00000408975.3:p.Thr319Ile
ENST00000535772.5:c.1037C>T	ENSP00000443028.1:p.Thr346Ile
ENST00000571987.5:c.2081C>T	ENSP00000458742.1:p.Thr694Ile
ENST00000574436.5:c.1130C>T	ENSP00000460965.1:p.Thr377Ile
ENST00000576518.1:n.6322C>T
NM_001123066.3:c.2135C>T	NP_001116538.2:p.Thr712Ile
NM_001123067.3:c.1043C>T	NP_001116539.1:p.Thr348Ile
NM_001203251.1:c.950C>T	NP_001190180.1:p.Thr317Ile
NM_001203252.1:c.1037C>T	NP_001190181.1:p.Thr346Ile
NM_005910.5:c.1130C>T	NP_005901.2:p.Thr377Ile
NM_016834.4:c.956C>T	NP_058518.1:p.Thr319Ile
NM_016835.4:c.2081C>T	NP_058519.3:p.Thr694Ile
NM_016841.4:c.863C>T	NP_058525.1:p.Thr288Ile
XM_005257362.3:c.2393C>T	XP_005257419.1:p.Thr798Ile
XM_005257364.3:c.2306C>T	XP_005257421.1:p.Thr769Ile
XM_005257365.3:c.2300C>T	XP_005257422.1:p.Thr767Ile
XM_005257366.2:c.2219C>T	XP_005257423.1:p.Thr740Ile
XM_005257367.3:c.2195C>T	XP_005257424.1:p.Thr732Ile
XM_005257368.3:c.2102C>T	XP_005257425.1:p.Thr701Ile
XM_005257369.3:c.1328C>T	XP_005257426.1:p.Thr443Ile
XM_005257370.3:c.1241C>T	XP_005257427.1:p.Thr414Ile
XM_005257371.3:c.1154C>T	XP_005257428.1:p.Thr385Ile
XM_005257362.4:c.2393C>T	XP_005257419.1:p.Thr798Ile
XM_005257364.4:c.2306C>T	XP_005257421.1:p.Thr769Ile
XM_005257365.4:c.2300C>T	XP_005257422.1:p.Thr767Ile
XM_005257366.3:c.2219C>T	XP_005257423.1:p.Thr740Ile
XM_005257367.4:c.2195C>T	XP_005257424.1:p.Thr732Ile
XM_005257368.4:c.2102C>T	XP_005257425.1:p.Thr701Ile
XM_005257369.4:c.1328C>T	XP_005257426.1:p.Thr443Ile
XM_005257370.4:c.1241C>T	XP_005257427.1:p.Thr414Ile
XM_005257371.4:c.1154C>T	XP_005257428.1:p.Thr385Ile
NM_001203251.2:c.950C>T	NP_001190180.1:p.Thr317Ile
NM_001377265.1:c.2306C>T MANE Select	NP_001364194.1:p.Thr769Ile
NM_001377266.1:c.2015C>T	NP_001364195.1:p.Thr672Ile
NM_001377267.1:c.772-1142C>T	NP_001364196.1:n.772-1142C>T
NM_001377268.1:c.863C>T	NP_001364197.1:p.Thr288Ile
NM_016834.5:c.956C>T	NP_058518.1:p.Thr319Ile
NM_016841.5:c.863C>T	NP_058525.1:p.Thr288Ile
NR_165166.1:n.961C>T
NM_001123066.4:c.2135C>T	NP_001116538.2:p.Thr712Ile
NM_001123067.4:c.1043C>T	NP_001116539.1:p.Thr348Ile
NM_001203252.2:c.1037C>T	NP_001190181.1:p.Thr346Ile
NM_005910.6:c.1130C>T	NP_005901.2:p.Thr377Ile
NM_016835.5:c.2081C>T	NP_058519.3:p.Thr694Ile