Canonical Allele Identifier: CA399983350

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44087745A>T (hg19) ; chr17:g.46010379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46010379A>T , CM000679.2:g.46010379A>T	GRCh38
NC_000017.10:g.44087745A>T , CM000679.1:g.44087745A>T	GRCh37
NC_000017.9:g.41443582A>T	NCBI36
NG_007398.1:g.120959A>T
NG_007398.2:g.120917A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.805A>T	ENSP00000413056.2:p.Lys269Ter
ENST00000703922.1:c.805A>T	ENSP00000515557.1:p.Lys269Ter
ENST00000703923.1:c.718A>T	ENSP00000515558.1:p.Lys240Ter
ENST00000703924.1:c.805A>T	ENSP00000515559.1:p.Lys269Ter
ENST00000703978.1:c.892A>T	ENSP00000515600.1:p.Lys298Ter
ENST00000703979.1:n.687-3864A>T
ENST00000703980.1:n.118A>T
ENST00000703981.1:n.61A>T
ENST00000262410.10:c.2068A>T MANE Select	ENSP00000262410.6:p.Lys690Ter
ENST00000344290.10:c.1801-3864A>T	ENSP00000340820.6:n.1801-3864A>T
ENST00000351559.10:c.892A>T	ENSP00000303214.7:p.Lys298Ter
ENST00000535772.6:c.736-3864A>T	ENSP00000443028.2:n.736-3864A>T
ENST00000680542.1:c.805A>T	ENSP00000505258.1:p.Lys269Ter
ENST00000680674.1:c.718A>T	ENSP00000505478.1:p.Lys240Ter
ENST00000262410.9:c.1843A>T	ENSP00000262410.5:p.Lys615Ter
ENST00000334239.12:c.649-3864A>T	ENSP00000334886.8:n.649-3864A>T
ENST00000340799.9:c.805A>T	ENSP00000340438.5:p.Lys269Ter
ENST00000344290.9:c.1897A>T	ENSP00000340820.5:p.Lys633Ter
ENST00000351559.9:c.892A>T	ENSP00000303214.7:p.Lys298Ter
ENST00000415613.6:c.1897A>T	ENSP00000410838.2:p.Lys633Ter
ENST00000420682.6:c.805A>T	ENSP00000413056.2:p.Lys269Ter
ENST00000431008.7:c.823-3864A>T	ENSP00000389250.3:n.823-3864A>T
ENST00000446361.7:c.718A>T	ENSP00000408975.3:p.Lys240Ter
ENST00000535772.5:c.823-3864A>T	ENSP00000443028.1:n.823-3864A>T
ENST00000570299.5:n.777-8239A>T
ENST00000571987.5:c.1843A>T	ENSP00000458742.1:p.Lys615Ter
ENST00000574436.5:c.892A>T	ENSP00000460965.1:p.Lys298Ter
ENST00000576518.1:n.6108-3864A>T
NM_001123066.3:c.1897A>T	NP_001116538.2:p.Lys633Ter
NM_001123067.3:c.805A>T	NP_001116539.1:p.Lys269Ter
NM_001203251.1:c.736-3864A>T	NP_001190180.1:n.736-3864A>T
NM_001203252.1:c.823-3864A>T	NP_001190181.1:n.823-3864A>T
NM_005910.5:c.892A>T	NP_005901.2:p.Lys298Ter
NM_016834.4:c.718A>T	NP_058518.1:p.Lys240Ter
NM_016835.4:c.1843A>T	NP_058519.3:p.Lys615Ter
NM_016841.4:c.649-3864A>T	NP_058525.1:n.649-3864A>T
XM_005257362.3:c.2155A>T	XP_005257419.1:p.Lys719Ter
XM_005257364.3:c.2068A>T	XP_005257421.1:p.Lys690Ter
XM_005257365.3:c.2086-3864A>T	XP_005257422.1:n.2086-3864A>T
XM_005257366.2:c.1981A>T	XP_005257423.1:p.Lys661Ter
XM_005257367.3:c.1957A>T	XP_005257424.1:p.Lys653Ter
XM_005257368.3:c.1888-3864A>T	XP_005257425.1:n.1888-3864A>T
XM_005257369.3:c.1090A>T	XP_005257426.1:p.Lys364Ter
XM_005257370.3:c.1003A>T	XP_005257427.1:p.Lys335Ter
XM_005257371.3:c.916A>T	XP_005257428.1:p.Lys306Ter
XM_005257362.4:c.2155A>T	XP_005257419.1:p.Lys719Ter
XM_005257364.4:c.2068A>T	XP_005257421.1:p.Lys690Ter
XM_005257365.4:c.2086-3864A>T	XP_005257422.1:n.2086-3864A>T
XM_005257366.3:c.1981A>T	XP_005257423.1:p.Lys661Ter
XM_005257367.4:c.1957A>T	XP_005257424.1:p.Lys653Ter
XM_005257368.4:c.1888-3864A>T	XP_005257425.1:n.1888-3864A>T
XM_005257369.4:c.1090A>T	XP_005257426.1:p.Lys364Ter
XM_005257370.4:c.1003A>T	XP_005257427.1:p.Lys335Ter
XM_005257371.4:c.916A>T	XP_005257428.1:p.Lys306Ter
NM_001203251.2:c.736-3864A>T	NP_001190180.1:n.736-3864A>T
NM_001377265.1:c.2068A>T MANE Select	NP_001364194.1:p.Lys690Ter
NM_001377266.1:c.1801-3864A>T	NP_001364195.1:n.1801-3864A>T
NM_001377267.1:c.736-3864A>T	NP_001364196.1:n.736-3864A>T
NM_001377268.1:c.649-3864A>T	NP_001364197.1:n.649-3864A>T
NM_016834.5:c.718A>T	NP_058518.1:p.Lys240Ter
NM_016841.5:c.649-3864A>T	NP_058525.1:n.649-3864A>T
NR_165166.1:n.747-3864A>T
NM_001123066.4:c.1897A>T	NP_001116538.2:p.Lys633Ter
NM_001123067.4:c.805A>T	NP_001116539.1:p.Lys269Ter
NM_001203252.2:c.823-3864A>T	NP_001190181.1:n.823-3864A>T
NM_005910.6:c.892A>T	NP_005901.2:p.Lys298Ter
NM_016835.5:c.1843A>T	NP_058519.3:p.Lys615Ter