Canonical Allele Identifier: CA399984296

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44101338T>G (hg19) ; chr17:g.46023972T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023972T>G , CM000679.2:g.46023972T>G	GRCh38
NC_000017.10:g.44101338T>G , CM000679.1:g.44101338T>G	GRCh37
NC_000017.9:g.41457183T>G	NCBI36
NG_007398.1:g.134560T>G
NG_007398.2:g.134510T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1040T>G	ENSP00000413056.2:p.Leu347Arg
ENST00000703922.1:c.1040T>G	ENSP00000515557.1:p.Leu347Arg
ENST00000703923.1:c.953T>G	ENSP00000515558.1:p.Leu318Arg
ENST00000703924.1:c.1040T>G	ENSP00000515559.1:p.Leu347Arg
ENST00000703978.1:c.1127T>G	ENSP00000515600.1:p.Leu376Arg
ENST00000703980.1:n.353T>G
ENST00000703981.1:n.311T>G
ENST00000703982.1:n.545T>G
ENST00000262410.10:c.2303T>G MANE Select	ENSP00000262410.6:p.Leu768Arg
ENST00000344290.10:c.2012T>G	ENSP00000340820.6:p.Leu671Arg
ENST00000351559.10:c.1127T>G	ENSP00000303214.7:p.Leu376Arg
ENST00000535772.6:c.947T>G	ENSP00000443028.2:p.Leu316Arg
ENST00000680542.1:c.1040T>G	ENSP00000505258.1:p.Leu347Arg
ENST00000680674.1:c.1076T>G	ENSP00000505478.1:p.Leu359Arg
ENST00000262410.9:c.2078T>G	ENSP00000262410.5:p.Leu693Arg
ENST00000334239.12:c.860T>G	ENSP00000334886.8:p.Leu287Arg
ENST00000340799.9:c.1040T>G	ENSP00000340438.5:p.Leu347Arg
ENST00000344290.9:c.2132T>G	ENSP00000340820.5:p.Leu711Arg
ENST00000351559.9:c.1127T>G	ENSP00000303214.7:p.Leu376Arg
ENST00000415613.6:c.2132T>G	ENSP00000410838.2:p.Leu711Arg
ENST00000420682.6:c.1040T>G	ENSP00000413056.2:p.Leu347Arg
ENST00000431008.7:c.1034T>G	ENSP00000389250.3:p.Leu345Arg
ENST00000446361.7:c.953T>G	ENSP00000408975.3:p.Leu318Arg
ENST00000535772.5:c.1034T>G	ENSP00000443028.1:p.Leu345Arg
ENST00000571987.5:c.2078T>G	ENSP00000458742.1:p.Leu693Arg
ENST00000574436.5:c.1127T>G	ENSP00000460965.1:p.Leu376Arg
ENST00000576518.1:n.6319T>G
NM_001123066.3:c.2132T>G	NP_001116538.2:p.Leu711Arg
NM_001123067.3:c.1040T>G	NP_001116539.1:p.Leu347Arg
NM_001203251.1:c.947T>G	NP_001190180.1:p.Leu316Arg
NM_001203252.1:c.1034T>G	NP_001190181.1:p.Leu345Arg
NM_005910.5:c.1127T>G	NP_005901.2:p.Leu376Arg
NM_016834.4:c.953T>G	NP_058518.1:p.Leu318Arg
NM_016835.4:c.2078T>G	NP_058519.3:p.Leu693Arg
NM_016841.4:c.860T>G	NP_058525.1:p.Leu287Arg
XM_005257362.3:c.2390T>G	XP_005257419.1:p.Leu797Arg
XM_005257364.3:c.2303T>G	XP_005257421.1:p.Leu768Arg
XM_005257365.3:c.2297T>G	XP_005257422.1:p.Leu766Arg
XM_005257366.2:c.2216T>G	XP_005257423.1:p.Leu739Arg
XM_005257367.3:c.2192T>G	XP_005257424.1:p.Leu731Arg
XM_005257368.3:c.2099T>G	XP_005257425.1:p.Leu700Arg
XM_005257369.3:c.1325T>G	XP_005257426.1:p.Leu442Arg
XM_005257370.3:c.1238T>G	XP_005257427.1:p.Leu413Arg
XM_005257371.3:c.1151T>G	XP_005257428.1:p.Leu384Arg
XM_005257362.4:c.2390T>G	XP_005257419.1:p.Leu797Arg
XM_005257364.4:c.2303T>G	XP_005257421.1:p.Leu768Arg
XM_005257365.4:c.2297T>G	XP_005257422.1:p.Leu766Arg
XM_005257366.3:c.2216T>G	XP_005257423.1:p.Leu739Arg
XM_005257367.4:c.2192T>G	XP_005257424.1:p.Leu731Arg
XM_005257368.4:c.2099T>G	XP_005257425.1:p.Leu700Arg
XM_005257369.4:c.1325T>G	XP_005257426.1:p.Leu442Arg
XM_005257370.4:c.1238T>G	XP_005257427.1:p.Leu413Arg
XM_005257371.4:c.1151T>G	XP_005257428.1:p.Leu384Arg
NM_001203251.2:c.947T>G	NP_001190180.1:p.Leu316Arg
NM_001377265.1:c.2303T>G MANE Select	NP_001364194.1:p.Leu768Arg
NM_001377266.1:c.2012T>G	NP_001364195.1:p.Leu671Arg
NM_001377267.1:c.772-1145T>G	NP_001364196.1:n.772-1145T>G
NM_001377268.1:c.860T>G	NP_001364197.1:p.Leu287Arg
NM_016834.5:c.953T>G	NP_058518.1:p.Leu318Arg
NM_016841.5:c.860T>G	NP_058525.1:p.Leu287Arg
NR_165166.1:n.958T>G
NM_001123066.4:c.2132T>G	NP_001116538.2:p.Leu711Arg
NM_001123067.4:c.1040T>G	NP_001116539.1:p.Leu347Arg
NM_001203252.2:c.1034T>G	NP_001190181.1:p.Leu345Arg
NM_005910.6:c.1127T>G	NP_005901.2:p.Leu376Arg
NM_016835.5:c.2078T>G	NP_058519.3:p.Leu693Arg