Canonical Allele Identifier: CA399983704

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096023T>G (hg19) ; chr17:g.46018657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018657T>G , CM000679.2:g.46018657T>G	GRCh38
NC_000017.10:g.44096023T>G , CM000679.1:g.44096023T>G	GRCh37
NC_000017.9:g.41451870T>G	NCBI36
NG_007398.1:g.129247T>G
NG_007398.2:g.129195T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.950T>G	ENSP00000413056.2:p.Phe317Cys
ENST00000703922.1:c.950T>G	ENSP00000515557.1:p.Phe317Cys
ENST00000703923.1:c.863T>G	ENSP00000515558.1:p.Phe288Cys
ENST00000703924.1:c.950T>G	ENSP00000515559.1:p.Phe317Cys
ENST00000703978.1:c.1037T>G	ENSP00000515600.1:p.Phe346Cys
ENST00000703979.1:n.808T>G
ENST00000703980.1:n.263T>G
ENST00000703981.1:n.221T>G
ENST00000703982.1:n.455T>G
ENST00000262410.10:c.2213T>G MANE Select	ENSP00000262410.6:p.Phe738Cys
ENST00000344290.10:c.1922T>G	ENSP00000340820.6:p.Phe641Cys
ENST00000351559.10:c.1037T>G	ENSP00000303214.7:p.Phe346Cys
ENST00000535772.6:c.857T>G	ENSP00000443028.2:p.Phe286Cys
ENST00000680542.1:c.950T>G	ENSP00000505258.1:p.Phe317Cys
ENST00000680674.1:c.986T>G	ENSP00000505478.1:p.Phe329Cys
ENST00000262410.9:c.1988T>G	ENSP00000262410.5:p.Phe663Cys
ENST00000334239.12:c.770T>G	ENSP00000334886.8:p.Phe257Cys
ENST00000340799.9:c.950T>G	ENSP00000340438.5:p.Phe317Cys
ENST00000344290.9:c.2042T>G	ENSP00000340820.5:p.Phe681Cys
ENST00000351559.9:c.1037T>G	ENSP00000303214.7:p.Phe346Cys
ENST00000415613.6:c.2042T>G	ENSP00000410838.2:p.Phe681Cys
ENST00000420682.6:c.950T>G	ENSP00000413056.2:p.Phe317Cys
ENST00000431008.7:c.944T>G	ENSP00000389250.3:p.Phe315Cys
ENST00000446361.7:c.863T>G	ENSP00000408975.3:p.Phe288Cys
ENST00000535772.5:c.944T>G	ENSP00000443028.1:p.Phe315Cys
ENST00000570299.5:n.816T>G
ENST00000571987.5:c.1988T>G	ENSP00000458742.1:p.Phe663Cys
ENST00000574436.5:c.1037T>G	ENSP00000460965.1:p.Phe346Cys
ENST00000576518.1:n.6229T>G
NM_001123066.3:c.2042T>G	NP_001116538.2:p.Phe681Cys
NM_001123067.3:c.950T>G	NP_001116539.1:p.Phe317Cys
NM_001203251.1:c.857T>G	NP_001190180.1:p.Phe286Cys
NM_001203252.1:c.944T>G	NP_001190181.1:p.Phe315Cys
NM_005910.5:c.1037T>G	NP_005901.2:p.Phe346Cys
NM_016834.4:c.863T>G	NP_058518.1:p.Phe288Cys
NM_016835.4:c.1988T>G	NP_058519.3:p.Phe663Cys
NM_016841.4:c.770T>G	NP_058525.1:p.Phe257Cys
XM_005257362.3:c.2300T>G	XP_005257419.1:p.Phe767Cys
XM_005257364.3:c.2213T>G	XP_005257421.1:p.Phe738Cys
XM_005257365.3:c.2207T>G	XP_005257422.1:p.Phe736Cys
XM_005257366.2:c.2126T>G	XP_005257423.1:p.Phe709Cys
XM_005257367.3:c.2102T>G	XP_005257424.1:p.Phe701Cys
XM_005257368.3:c.2009T>G	XP_005257425.1:p.Phe670Cys
XM_005257369.3:c.1235T>G	XP_005257426.1:p.Phe412Cys
XM_005257370.3:c.1148T>G	XP_005257427.1:p.Phe383Cys
XM_005257371.3:c.1061T>G	XP_005257428.1:p.Phe354Cys
XM_005257362.4:c.2300T>G	XP_005257419.1:p.Phe767Cys
XM_005257364.4:c.2213T>G	XP_005257421.1:p.Phe738Cys
XM_005257365.4:c.2207T>G	XP_005257422.1:p.Phe736Cys
XM_005257366.3:c.2126T>G	XP_005257423.1:p.Phe709Cys
XM_005257367.4:c.2102T>G	XP_005257424.1:p.Phe701Cys
XM_005257368.4:c.2009T>G	XP_005257425.1:p.Phe670Cys
XM_005257369.4:c.1235T>G	XP_005257426.1:p.Phe412Cys
XM_005257370.4:c.1148T>G	XP_005257427.1:p.Phe383Cys
XM_005257371.4:c.1061T>G	XP_005257428.1:p.Phe354Cys
NM_001203251.2:c.857T>G	NP_001190180.1:p.Phe286Cys
NM_001377265.1:c.2213T>G MANE Select	NP_001364194.1:p.Phe738Cys
NM_001377266.1:c.1922T>G	NP_001364195.1:p.Phe641Cys
NM_001377267.1:c.771+4379T>G	NP_001364196.1:n.771+4379T>G
NM_001377268.1:c.770T>G	NP_001364197.1:p.Phe257Cys
NM_016834.5:c.863T>G	NP_058518.1:p.Phe288Cys
NM_016841.5:c.770T>G	NP_058525.1:p.Phe257Cys
NR_165166.1:n.868T>G
NM_001123066.4:c.2042T>G	NP_001116538.2:p.Phe681Cys
NM_001123067.4:c.950T>G	NP_001116539.1:p.Phe317Cys
NM_001203252.2:c.944T>G	NP_001190181.1:p.Phe315Cys
NM_005910.6:c.1037T>G	NP_005901.2:p.Phe346Cys
NM_016835.5:c.1988T>G	NP_058519.3:p.Phe663Cys