Canonical Allele Identifier: CA399983675

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096012G>T (hg19) ; chr17:g.46018646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018646G>T , CM000679.2:g.46018646G>T	GRCh38
NC_000017.10:g.44096012G>T , CM000679.1:g.44096012G>T	GRCh37
NC_000017.9:g.41451859G>T	NCBI36
NG_007398.1:g.129236G>T
NG_007398.2:g.129184G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.939G>T	ENSP00000413056.2:p.Glu313Asp
ENST00000703922.1:c.939G>T	ENSP00000515557.1:p.Glu313Asp
ENST00000703923.1:c.852G>T	ENSP00000515558.1:p.Glu284Asp
ENST00000703924.1:c.939G>T	ENSP00000515559.1:p.Glu313Asp
ENST00000703978.1:c.1026G>T	ENSP00000515600.1:p.Glu342Asp
ENST00000703979.1:n.797G>T
ENST00000703980.1:n.252G>T
ENST00000703981.1:n.210G>T
ENST00000703982.1:n.444G>T
ENST00000262410.10:c.2202G>T MANE Select	ENSP00000262410.6:p.Glu734Asp
ENST00000344290.10:c.1911G>T	ENSP00000340820.6:p.Glu637Asp
ENST00000351559.10:c.1026G>T	ENSP00000303214.7:p.Glu342Asp
ENST00000535772.6:c.846G>T	ENSP00000443028.2:p.Glu282Asp
ENST00000680542.1:c.939G>T	ENSP00000505258.1:p.Glu313Asp
ENST00000680674.1:c.975G>T	ENSP00000505478.1:p.Glu325Asp
ENST00000262410.9:c.1977G>T	ENSP00000262410.5:p.Glu659Asp
ENST00000334239.12:c.759G>T	ENSP00000334886.8:p.Glu253Asp
ENST00000340799.9:c.939G>T	ENSP00000340438.5:p.Glu313Asp
ENST00000344290.9:c.2031G>T	ENSP00000340820.5:p.Glu677Asp
ENST00000351559.9:c.1026G>T	ENSP00000303214.7:p.Glu342Asp
ENST00000415613.6:c.2031G>T	ENSP00000410838.2:p.Glu677Asp
ENST00000420682.6:c.939G>T	ENSP00000413056.2:p.Glu313Asp
ENST00000431008.7:c.933G>T	ENSP00000389250.3:p.Glu311Asp
ENST00000446361.7:c.852G>T	ENSP00000408975.3:p.Glu284Asp
ENST00000535772.5:c.933G>T	ENSP00000443028.1:p.Glu311Asp
ENST00000570299.5:n.805G>T
ENST00000571987.5:c.1977G>T	ENSP00000458742.1:p.Glu659Asp
ENST00000574436.5:c.1026G>T	ENSP00000460965.1:p.Glu342Asp
ENST00000576518.1:n.6218G>T
NM_001123066.3:c.2031G>T	NP_001116538.2:p.Glu677Asp
NM_001123067.3:c.939G>T	NP_001116539.1:p.Glu313Asp
NM_001203251.1:c.846G>T	NP_001190180.1:p.Glu282Asp
NM_001203252.1:c.933G>T	NP_001190181.1:p.Glu311Asp
NM_005910.5:c.1026G>T	NP_005901.2:p.Glu342Asp
NM_016834.4:c.852G>T	NP_058518.1:p.Glu284Asp
NM_016835.4:c.1977G>T	NP_058519.3:p.Glu659Asp
NM_016841.4:c.759G>T	NP_058525.1:p.Glu253Asp
XM_005257362.3:c.2289G>T	XP_005257419.1:p.Glu763Asp
XM_005257364.3:c.2202G>T	XP_005257421.1:p.Glu734Asp
XM_005257365.3:c.2196G>T	XP_005257422.1:p.Glu732Asp
XM_005257366.2:c.2115G>T	XP_005257423.1:p.Glu705Asp
XM_005257367.3:c.2091G>T	XP_005257424.1:p.Glu697Asp
XM_005257368.3:c.1998G>T	XP_005257425.1:p.Glu666Asp
XM_005257369.3:c.1224G>T	XP_005257426.1:p.Glu408Asp
XM_005257370.3:c.1137G>T	XP_005257427.1:p.Glu379Asp
XM_005257371.3:c.1050G>T	XP_005257428.1:p.Glu350Asp
XM_005257362.4:c.2289G>T	XP_005257419.1:p.Glu763Asp
XM_005257364.4:c.2202G>T	XP_005257421.1:p.Glu734Asp
XM_005257365.4:c.2196G>T	XP_005257422.1:p.Glu732Asp
XM_005257366.3:c.2115G>T	XP_005257423.1:p.Glu705Asp
XM_005257367.4:c.2091G>T	XP_005257424.1:p.Glu697Asp
XM_005257368.4:c.1998G>T	XP_005257425.1:p.Glu666Asp
XM_005257369.4:c.1224G>T	XP_005257426.1:p.Glu408Asp
XM_005257370.4:c.1137G>T	XP_005257427.1:p.Glu379Asp
XM_005257371.4:c.1050G>T	XP_005257428.1:p.Glu350Asp
NM_001203251.2:c.846G>T	NP_001190180.1:p.Glu282Asp
NM_001377265.1:c.2202G>T MANE Select	NP_001364194.1:p.Glu734Asp
NM_001377266.1:c.1911G>T	NP_001364195.1:p.Glu637Asp
NM_001377267.1:c.771+4368G>T	NP_001364196.1:n.771+4368G>T
NM_001377268.1:c.759G>T	NP_001364197.1:p.Glu253Asp
NM_016834.5:c.852G>T	NP_058518.1:p.Glu284Asp
NM_016841.5:c.759G>T	NP_058525.1:p.Glu253Asp
NR_165166.1:n.857G>T
NM_001123066.4:c.2031G>T	NP_001116538.2:p.Glu677Asp
NM_001123067.4:c.939G>T	NP_001116539.1:p.Glu313Asp
NM_001203252.2:c.933G>T	NP_001190181.1:p.Glu311Asp
NM_005910.6:c.1026G>T	NP_005901.2:p.Glu342Asp
NM_016835.5:c.1977G>T	NP_058519.3:p.Glu659Asp