Canonical Allele Identifier: CA399983726

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096032G>A (hg19) ; chr17:g.46018666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018666G>A , CM000679.2:g.46018666G>A	GRCh38
NC_000017.10:g.44096032G>A , CM000679.1:g.44096032G>A	GRCh37
NC_000017.9:g.41451879G>A	NCBI36
NG_007398.1:g.129256G>A
NG_007398.2:g.129204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.959G>A	ENSP00000413056.2:p.Arg320Lys
ENST00000703922.1:c.959G>A	ENSP00000515557.1:p.Arg320Lys
ENST00000703923.1:c.872G>A	ENSP00000515558.1:p.Arg291Lys
ENST00000703924.1:c.959G>A	ENSP00000515559.1:p.Arg320Lys
ENST00000703978.1:c.1046G>A	ENSP00000515600.1:p.Arg349Lys
ENST00000703979.1:n.817G>A
ENST00000703980.1:n.272G>A
ENST00000703981.1:n.230G>A
ENST00000703982.1:n.464G>A
ENST00000262410.10:c.2222G>A MANE Select	ENSP00000262410.6:p.Arg741Lys
ENST00000344290.10:c.1931G>A	ENSP00000340820.6:p.Arg644Lys
ENST00000351559.10:c.1046G>A	ENSP00000303214.7:p.Arg349Lys
ENST00000535772.6:c.866G>A	ENSP00000443028.2:p.Arg289Lys
ENST00000680542.1:c.959G>A	ENSP00000505258.1:p.Arg320Lys
ENST00000680674.1:c.995G>A	ENSP00000505478.1:p.Arg332Lys
ENST00000262410.9:c.1997G>A	ENSP00000262410.5:p.Arg666Lys
ENST00000334239.12:c.779G>A	ENSP00000334886.8:p.Arg260Lys
ENST00000340799.9:c.959G>A	ENSP00000340438.5:p.Arg320Lys
ENST00000344290.9:c.2051G>A	ENSP00000340820.5:p.Arg684Lys
ENST00000351559.9:c.1046G>A	ENSP00000303214.7:p.Arg349Lys
ENST00000415613.6:c.2051G>A	ENSP00000410838.2:p.Arg684Lys
ENST00000420682.6:c.959G>A	ENSP00000413056.2:p.Arg320Lys
ENST00000431008.7:c.953G>A	ENSP00000389250.3:p.Arg318Lys
ENST00000446361.7:c.872G>A	ENSP00000408975.3:p.Arg291Lys
ENST00000535772.5:c.953G>A	ENSP00000443028.1:p.Arg318Lys
ENST00000570299.5:n.825G>A
ENST00000571987.5:c.1997G>A	ENSP00000458742.1:p.Arg666Lys
ENST00000574436.5:c.1046G>A	ENSP00000460965.1:p.Arg349Lys
ENST00000576518.1:n.6238G>A
NM_001123066.3:c.2051G>A	NP_001116538.2:p.Arg684Lys
NM_001123067.3:c.959G>A	NP_001116539.1:p.Arg320Lys
NM_001203251.1:c.866G>A	NP_001190180.1:p.Arg289Lys
NM_001203252.1:c.953G>A	NP_001190181.1:p.Arg318Lys
NM_005910.5:c.1046G>A	NP_005901.2:p.Arg349Lys
NM_016834.4:c.872G>A	NP_058518.1:p.Arg291Lys
NM_016835.4:c.1997G>A	NP_058519.3:p.Arg666Lys
NM_016841.4:c.779G>A	NP_058525.1:p.Arg260Lys
XM_005257362.3:c.2309G>A	XP_005257419.1:p.Arg770Lys
XM_005257364.3:c.2222G>A	XP_005257421.1:p.Arg741Lys
XM_005257365.3:c.2216G>A	XP_005257422.1:p.Arg739Lys
XM_005257366.2:c.2135G>A	XP_005257423.1:p.Arg712Lys
XM_005257367.3:c.2111G>A	XP_005257424.1:p.Arg704Lys
XM_005257368.3:c.2018G>A	XP_005257425.1:p.Arg673Lys
XM_005257369.3:c.1244G>A	XP_005257426.1:p.Arg415Lys
XM_005257370.3:c.1157G>A	XP_005257427.1:p.Arg386Lys
XM_005257371.3:c.1070G>A	XP_005257428.1:p.Arg357Lys
XM_005257362.4:c.2309G>A	XP_005257419.1:p.Arg770Lys
XM_005257364.4:c.2222G>A	XP_005257421.1:p.Arg741Lys
XM_005257365.4:c.2216G>A	XP_005257422.1:p.Arg739Lys
XM_005257366.3:c.2135G>A	XP_005257423.1:p.Arg712Lys
XM_005257367.4:c.2111G>A	XP_005257424.1:p.Arg704Lys
XM_005257368.4:c.2018G>A	XP_005257425.1:p.Arg673Lys
XM_005257369.4:c.1244G>A	XP_005257426.1:p.Arg415Lys
XM_005257370.4:c.1157G>A	XP_005257427.1:p.Arg386Lys
XM_005257371.4:c.1070G>A	XP_005257428.1:p.Arg357Lys
NM_001203251.2:c.866G>A	NP_001190180.1:p.Arg289Lys
NM_001377265.1:c.2222G>A MANE Select	NP_001364194.1:p.Arg741Lys
NM_001377266.1:c.1931G>A	NP_001364195.1:p.Arg644Lys
NM_001377267.1:c.771+4388G>A	NP_001364196.1:n.771+4388G>A
NM_001377268.1:c.779G>A	NP_001364197.1:p.Arg260Lys
NM_016834.5:c.872G>A	NP_058518.1:p.Arg291Lys
NM_016841.5:c.779G>A	NP_058525.1:p.Arg260Lys
NR_165166.1:n.877G>A
NM_001123066.4:c.2051G>A	NP_001116538.2:p.Arg684Lys
NM_001123067.4:c.959G>A	NP_001116539.1:p.Arg320Lys
NM_001203252.2:c.953G>A	NP_001190181.1:p.Arg318Lys
NM_005910.6:c.1046G>A	NP_005901.2:p.Arg349Lys
NM_016835.5:c.1997G>A	NP_058519.3:p.Arg666Lys