Canonical Allele Identifier: CA399983706

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096024C>G (hg19) ; chr17:g.46018658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018658C>G , CM000679.2:g.46018658C>G	GRCh38
NC_000017.10:g.44096024C>G , CM000679.1:g.44096024C>G	GRCh37
NC_000017.9:g.41451871C>G	NCBI36
NG_007398.1:g.129248C>G
NG_007398.2:g.129196C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.951C>G	ENSP00000413056.2:p.Phe317Leu
ENST00000703922.1:c.951C>G	ENSP00000515557.1:p.Phe317Leu
ENST00000703923.1:c.864C>G	ENSP00000515558.1:p.Phe288Leu
ENST00000703924.1:c.951C>G	ENSP00000515559.1:p.Phe317Leu
ENST00000703978.1:c.1038C>G	ENSP00000515600.1:p.Phe346Leu
ENST00000703979.1:n.809C>G
ENST00000703980.1:n.264C>G
ENST00000703981.1:n.222C>G
ENST00000703982.1:n.456C>G
ENST00000262410.10:c.2214C>G MANE Select	ENSP00000262410.6:p.Phe738Leu
ENST00000344290.10:c.1923C>G	ENSP00000340820.6:p.Phe641Leu
ENST00000351559.10:c.1038C>G	ENSP00000303214.7:p.Phe346Leu
ENST00000535772.6:c.858C>G	ENSP00000443028.2:p.Phe286Leu
ENST00000680542.1:c.951C>G	ENSP00000505258.1:p.Phe317Leu
ENST00000680674.1:c.987C>G	ENSP00000505478.1:p.Phe329Leu
ENST00000262410.9:c.1989C>G	ENSP00000262410.5:p.Phe663Leu
ENST00000334239.12:c.771C>G	ENSP00000334886.8:p.Phe257Leu
ENST00000340799.9:c.951C>G	ENSP00000340438.5:p.Phe317Leu
ENST00000344290.9:c.2043C>G	ENSP00000340820.5:p.Phe681Leu
ENST00000351559.9:c.1038C>G	ENSP00000303214.7:p.Phe346Leu
ENST00000415613.6:c.2043C>G	ENSP00000410838.2:p.Phe681Leu
ENST00000420682.6:c.951C>G	ENSP00000413056.2:p.Phe317Leu
ENST00000431008.7:c.945C>G	ENSP00000389250.3:p.Phe315Leu
ENST00000446361.7:c.864C>G	ENSP00000408975.3:p.Phe288Leu
ENST00000535772.5:c.945C>G	ENSP00000443028.1:p.Phe315Leu
ENST00000570299.5:n.817C>G
ENST00000571987.5:c.1989C>G	ENSP00000458742.1:p.Phe663Leu
ENST00000574436.5:c.1038C>G	ENSP00000460965.1:p.Phe346Leu
ENST00000576518.1:n.6230C>G
NM_001123066.3:c.2043C>G	NP_001116538.2:p.Phe681Leu
NM_001123067.3:c.951C>G	NP_001116539.1:p.Phe317Leu
NM_001203251.1:c.858C>G	NP_001190180.1:p.Phe286Leu
NM_001203252.1:c.945C>G	NP_001190181.1:p.Phe315Leu
NM_005910.5:c.1038C>G	NP_005901.2:p.Phe346Leu
NM_016834.4:c.864C>G	NP_058518.1:p.Phe288Leu
NM_016835.4:c.1989C>G	NP_058519.3:p.Phe663Leu
NM_016841.4:c.771C>G	NP_058525.1:p.Phe257Leu
XM_005257362.3:c.2301C>G	XP_005257419.1:p.Phe767Leu
XM_005257364.3:c.2214C>G	XP_005257421.1:p.Phe738Leu
XM_005257365.3:c.2208C>G	XP_005257422.1:p.Phe736Leu
XM_005257366.2:c.2127C>G	XP_005257423.1:p.Phe709Leu
XM_005257367.3:c.2103C>G	XP_005257424.1:p.Phe701Leu
XM_005257368.3:c.2010C>G	XP_005257425.1:p.Phe670Leu
XM_005257369.3:c.1236C>G	XP_005257426.1:p.Phe412Leu
XM_005257370.3:c.1149C>G	XP_005257427.1:p.Phe383Leu
XM_005257371.3:c.1062C>G	XP_005257428.1:p.Phe354Leu
XM_005257362.4:c.2301C>G	XP_005257419.1:p.Phe767Leu
XM_005257364.4:c.2214C>G	XP_005257421.1:p.Phe738Leu
XM_005257365.4:c.2208C>G	XP_005257422.1:p.Phe736Leu
XM_005257366.3:c.2127C>G	XP_005257423.1:p.Phe709Leu
XM_005257367.4:c.2103C>G	XP_005257424.1:p.Phe701Leu
XM_005257368.4:c.2010C>G	XP_005257425.1:p.Phe670Leu
XM_005257369.4:c.1236C>G	XP_005257426.1:p.Phe412Leu
XM_005257370.4:c.1149C>G	XP_005257427.1:p.Phe383Leu
XM_005257371.4:c.1062C>G	XP_005257428.1:p.Phe354Leu
NM_001203251.2:c.858C>G	NP_001190180.1:p.Phe286Leu
NM_001377265.1:c.2214C>G MANE Select	NP_001364194.1:p.Phe738Leu
NM_001377266.1:c.1923C>G	NP_001364195.1:p.Phe641Leu
NM_001377267.1:c.771+4380C>G	NP_001364196.1:n.771+4380C>G
NM_001377268.1:c.771C>G	NP_001364197.1:p.Phe257Leu
NM_016834.5:c.864C>G	NP_058518.1:p.Phe288Leu
NM_016841.5:c.771C>G	NP_058525.1:p.Phe257Leu
NR_165166.1:n.869C>G
NM_001123066.4:c.2043C>G	NP_001116538.2:p.Phe681Leu
NM_001123067.4:c.951C>G	NP_001116539.1:p.Phe317Leu
NM_001203252.2:c.945C>G	NP_001190181.1:p.Phe315Leu
NM_005910.6:c.1038C>G	NP_005901.2:p.Phe346Leu
NM_016835.5:c.1989C>G	NP_058519.3:p.Phe663Leu