Canonical Allele Identifier: CA399983707

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096025A>C (hg19) ; chr17:g.46018659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018659A>C , CM000679.2:g.46018659A>C	GRCh38
NC_000017.10:g.44096025A>C , CM000679.1:g.44096025A>C	GRCh37
NC_000017.9:g.41451872A>C	NCBI36
NG_007398.1:g.129249A>C
NG_007398.2:g.129197A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.952A>C	ENSP00000413056.2:p.Lys318Gln
ENST00000703922.1:c.952A>C	ENSP00000515557.1:p.Lys318Gln
ENST00000703923.1:c.865A>C	ENSP00000515558.1:p.Lys289Gln
ENST00000703924.1:c.952A>C	ENSP00000515559.1:p.Lys318Gln
ENST00000703978.1:c.1039A>C	ENSP00000515600.1:p.Lys347Gln
ENST00000703979.1:n.810A>C
ENST00000703980.1:n.265A>C
ENST00000703981.1:n.223A>C
ENST00000703982.1:n.457A>C
ENST00000262410.10:c.2215A>C MANE Select	ENSP00000262410.6:p.Lys739Gln
ENST00000344290.10:c.1924A>C	ENSP00000340820.6:p.Lys642Gln
ENST00000351559.10:c.1039A>C	ENSP00000303214.7:p.Lys347Gln
ENST00000535772.6:c.859A>C	ENSP00000443028.2:p.Lys287Gln
ENST00000680542.1:c.952A>C	ENSP00000505258.1:p.Lys318Gln
ENST00000680674.1:c.988A>C	ENSP00000505478.1:p.Lys330Gln
ENST00000262410.9:c.1990A>C	ENSP00000262410.5:p.Lys664Gln
ENST00000334239.12:c.772A>C	ENSP00000334886.8:p.Lys258Gln
ENST00000340799.9:c.952A>C	ENSP00000340438.5:p.Lys318Gln
ENST00000344290.9:c.2044A>C	ENSP00000340820.5:p.Lys682Gln
ENST00000351559.9:c.1039A>C	ENSP00000303214.7:p.Lys347Gln
ENST00000415613.6:c.2044A>C	ENSP00000410838.2:p.Lys682Gln
ENST00000420682.6:c.952A>C	ENSP00000413056.2:p.Lys318Gln
ENST00000431008.7:c.946A>C	ENSP00000389250.3:p.Lys316Gln
ENST00000446361.7:c.865A>C	ENSP00000408975.3:p.Lys289Gln
ENST00000535772.5:c.946A>C	ENSP00000443028.1:p.Lys316Gln
ENST00000570299.5:n.818A>C
ENST00000571987.5:c.1990A>C	ENSP00000458742.1:p.Lys664Gln
ENST00000574436.5:c.1039A>C	ENSP00000460965.1:p.Lys347Gln
ENST00000576518.1:n.6231A>C
NM_001123066.3:c.2044A>C	NP_001116538.2:p.Lys682Gln
NM_001123067.3:c.952A>C	NP_001116539.1:p.Lys318Gln
NM_001203251.1:c.859A>C	NP_001190180.1:p.Lys287Gln
NM_001203252.1:c.946A>C	NP_001190181.1:p.Lys316Gln
NM_005910.5:c.1039A>C	NP_005901.2:p.Lys347Gln
NM_016834.4:c.865A>C	NP_058518.1:p.Lys289Gln
NM_016835.4:c.1990A>C	NP_058519.3:p.Lys664Gln
NM_016841.4:c.772A>C	NP_058525.1:p.Lys258Gln
XM_005257362.3:c.2302A>C	XP_005257419.1:p.Lys768Gln
XM_005257364.3:c.2215A>C	XP_005257421.1:p.Lys739Gln
XM_005257365.3:c.2209A>C	XP_005257422.1:p.Lys737Gln
XM_005257366.2:c.2128A>C	XP_005257423.1:p.Lys710Gln
XM_005257367.3:c.2104A>C	XP_005257424.1:p.Lys702Gln
XM_005257368.3:c.2011A>C	XP_005257425.1:p.Lys671Gln
XM_005257369.3:c.1237A>C	XP_005257426.1:p.Lys413Gln
XM_005257370.3:c.1150A>C	XP_005257427.1:p.Lys384Gln
XM_005257371.3:c.1063A>C	XP_005257428.1:p.Lys355Gln
XM_005257362.4:c.2302A>C	XP_005257419.1:p.Lys768Gln
XM_005257364.4:c.2215A>C	XP_005257421.1:p.Lys739Gln
XM_005257365.4:c.2209A>C	XP_005257422.1:p.Lys737Gln
XM_005257366.3:c.2128A>C	XP_005257423.1:p.Lys710Gln
XM_005257367.4:c.2104A>C	XP_005257424.1:p.Lys702Gln
XM_005257368.4:c.2011A>C	XP_005257425.1:p.Lys671Gln
XM_005257369.4:c.1237A>C	XP_005257426.1:p.Lys413Gln
XM_005257370.4:c.1150A>C	XP_005257427.1:p.Lys384Gln
XM_005257371.4:c.1063A>C	XP_005257428.1:p.Lys355Gln
NM_001203251.2:c.859A>C	NP_001190180.1:p.Lys287Gln
NM_001377265.1:c.2215A>C MANE Select	NP_001364194.1:p.Lys739Gln
NM_001377266.1:c.1924A>C	NP_001364195.1:p.Lys642Gln
NM_001377267.1:c.771+4381A>C	NP_001364196.1:n.771+4381A>C
NM_001377268.1:c.772A>C	NP_001364197.1:p.Lys258Gln
NM_016834.5:c.865A>C	NP_058518.1:p.Lys289Gln
NM_016841.5:c.772A>C	NP_058525.1:p.Lys258Gln
NR_165166.1:n.870A>C
NM_001123066.4:c.2044A>C	NP_001116538.2:p.Lys682Gln
NM_001123067.4:c.952A>C	NP_001116539.1:p.Lys318Gln
NM_001203252.2:c.946A>C	NP_001190181.1:p.Lys316Gln
NM_005910.6:c.1039A>C	NP_005901.2:p.Lys347Gln
NM_016835.5:c.1990A>C	NP_058519.3:p.Lys664Gln