Canonical Allele Identifier: CA399983733

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096035T>A (hg19) ; chr17:g.46018669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018669T>A , CM000679.2:g.46018669T>A	GRCh38
NC_000017.10:g.44096035T>A , CM000679.1:g.44096035T>A	GRCh37
NC_000017.9:g.41451882T>A	NCBI36
NG_007398.1:g.129259T>A
NG_007398.2:g.129207T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.962T>A	ENSP00000413056.2:p.Val321Asp
ENST00000703922.1:c.962T>A	ENSP00000515557.1:p.Val321Asp
ENST00000703923.1:c.875T>A	ENSP00000515558.1:p.Val292Asp
ENST00000703924.1:c.962T>A	ENSP00000515559.1:p.Val321Asp
ENST00000703978.1:c.1049T>A	ENSP00000515600.1:p.Val350Asp
ENST00000703979.1:n.820T>A
ENST00000703980.1:n.275T>A
ENST00000703981.1:n.233T>A
ENST00000703982.1:n.467T>A
ENST00000262410.10:c.2225T>A MANE Select	ENSP00000262410.6:p.Val742Asp
ENST00000344290.10:c.1934T>A	ENSP00000340820.6:p.Val645Asp
ENST00000351559.10:c.1049T>A	ENSP00000303214.7:p.Val350Asp
ENST00000535772.6:c.869T>A	ENSP00000443028.2:p.Val290Asp
ENST00000680542.1:c.962T>A	ENSP00000505258.1:p.Val321Asp
ENST00000680674.1:c.998T>A	ENSP00000505478.1:p.Val333Asp
ENST00000262410.9:c.2000T>A	ENSP00000262410.5:p.Val667Asp
ENST00000334239.12:c.782T>A	ENSP00000334886.8:p.Val261Asp
ENST00000340799.9:c.962T>A	ENSP00000340438.5:p.Val321Asp
ENST00000344290.9:c.2054T>A	ENSP00000340820.5:p.Val685Asp
ENST00000351559.9:c.1049T>A	ENSP00000303214.7:p.Val350Asp
ENST00000415613.6:c.2054T>A	ENSP00000410838.2:p.Val685Asp
ENST00000420682.6:c.962T>A	ENSP00000413056.2:p.Val321Asp
ENST00000431008.7:c.956T>A	ENSP00000389250.3:p.Val319Asp
ENST00000446361.7:c.875T>A	ENSP00000408975.3:p.Val292Asp
ENST00000535772.5:c.956T>A	ENSP00000443028.1:p.Val319Asp
ENST00000570299.5:n.828T>A
ENST00000571987.5:c.2000T>A	ENSP00000458742.1:p.Val667Asp
ENST00000574436.5:c.1049T>A	ENSP00000460965.1:p.Val350Asp
ENST00000576518.1:n.6241T>A
NM_001123066.3:c.2054T>A	NP_001116538.2:p.Val685Asp
NM_001123067.3:c.962T>A	NP_001116539.1:p.Val321Asp
NM_001203251.1:c.869T>A	NP_001190180.1:p.Val290Asp
NM_001203252.1:c.956T>A	NP_001190181.1:p.Val319Asp
NM_005910.5:c.1049T>A	NP_005901.2:p.Val350Asp
NM_016834.4:c.875T>A	NP_058518.1:p.Val292Asp
NM_016835.4:c.2000T>A	NP_058519.3:p.Val667Asp
NM_016841.4:c.782T>A	NP_058525.1:p.Val261Asp
XM_005257362.3:c.2312T>A	XP_005257419.1:p.Val771Asp
XM_005257364.3:c.2225T>A	XP_005257421.1:p.Val742Asp
XM_005257365.3:c.2219T>A	XP_005257422.1:p.Val740Asp
XM_005257366.2:c.2138T>A	XP_005257423.1:p.Val713Asp
XM_005257367.3:c.2114T>A	XP_005257424.1:p.Val705Asp
XM_005257368.3:c.2021T>A	XP_005257425.1:p.Val674Asp
XM_005257369.3:c.1247T>A	XP_005257426.1:p.Val416Asp
XM_005257370.3:c.1160T>A	XP_005257427.1:p.Val387Asp
XM_005257371.3:c.1073T>A	XP_005257428.1:p.Val358Asp
XM_005257362.4:c.2312T>A	XP_005257419.1:p.Val771Asp
XM_005257364.4:c.2225T>A	XP_005257421.1:p.Val742Asp
XM_005257365.4:c.2219T>A	XP_005257422.1:p.Val740Asp
XM_005257366.3:c.2138T>A	XP_005257423.1:p.Val713Asp
XM_005257367.4:c.2114T>A	XP_005257424.1:p.Val705Asp
XM_005257368.4:c.2021T>A	XP_005257425.1:p.Val674Asp
XM_005257369.4:c.1247T>A	XP_005257426.1:p.Val416Asp
XM_005257370.4:c.1160T>A	XP_005257427.1:p.Val387Asp
XM_005257371.4:c.1073T>A	XP_005257428.1:p.Val358Asp
NM_001203251.2:c.869T>A	NP_001190180.1:p.Val290Asp
NM_001377265.1:c.2225T>A MANE Select	NP_001364194.1:p.Val742Asp
NM_001377266.1:c.1934T>A	NP_001364195.1:p.Val645Asp
NM_001377267.1:c.771+4391T>A	NP_001364196.1:n.771+4391T>A
NM_001377268.1:c.782T>A	NP_001364197.1:p.Val261Asp
NM_016834.5:c.875T>A	NP_058518.1:p.Val292Asp
NM_016841.5:c.782T>A	NP_058525.1:p.Val261Asp
NR_165166.1:n.880T>A
NM_001123066.4:c.2054T>A	NP_001116538.2:p.Val685Asp
NM_001123067.4:c.962T>A	NP_001116539.1:p.Val321Asp
NM_001203252.2:c.956T>A	NP_001190181.1:p.Val319Asp
NM_005910.6:c.1049T>A	NP_005901.2:p.Val350Asp
NM_016835.5:c.2000T>A	NP_058519.3:p.Val667Asp