Canonical Allele Identifier: CA399983731

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096034G>C (hg19) ; chr17:g.46018668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018668G>C , CM000679.2:g.46018668G>C	GRCh38
NC_000017.10:g.44096034G>C , CM000679.1:g.44096034G>C	GRCh37
NC_000017.9:g.41451881G>C	NCBI36
NG_007398.1:g.129258G>C
NG_007398.2:g.129206G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.961G>C	ENSP00000413056.2:p.Val321Leu
ENST00000703922.1:c.961G>C	ENSP00000515557.1:p.Val321Leu
ENST00000703923.1:c.874G>C	ENSP00000515558.1:p.Val292Leu
ENST00000703924.1:c.961G>C	ENSP00000515559.1:p.Val321Leu
ENST00000703978.1:c.1048G>C	ENSP00000515600.1:p.Val350Leu
ENST00000703979.1:n.819G>C
ENST00000703980.1:n.274G>C
ENST00000703981.1:n.232G>C
ENST00000703982.1:n.466G>C
ENST00000262410.10:c.2224G>C MANE Select	ENSP00000262410.6:p.Val742Leu
ENST00000344290.10:c.1933G>C	ENSP00000340820.6:p.Val645Leu
ENST00000351559.10:c.1048G>C	ENSP00000303214.7:p.Val350Leu
ENST00000535772.6:c.868G>C	ENSP00000443028.2:p.Val290Leu
ENST00000680542.1:c.961G>C	ENSP00000505258.1:p.Val321Leu
ENST00000680674.1:c.997G>C	ENSP00000505478.1:p.Val333Leu
ENST00000262410.9:c.1999G>C	ENSP00000262410.5:p.Val667Leu
ENST00000334239.12:c.781G>C	ENSP00000334886.8:p.Val261Leu
ENST00000340799.9:c.961G>C	ENSP00000340438.5:p.Val321Leu
ENST00000344290.9:c.2053G>C	ENSP00000340820.5:p.Val685Leu
ENST00000351559.9:c.1048G>C	ENSP00000303214.7:p.Val350Leu
ENST00000415613.6:c.2053G>C	ENSP00000410838.2:p.Val685Leu
ENST00000420682.6:c.961G>C	ENSP00000413056.2:p.Val321Leu
ENST00000431008.7:c.955G>C	ENSP00000389250.3:p.Val319Leu
ENST00000446361.7:c.874G>C	ENSP00000408975.3:p.Val292Leu
ENST00000535772.5:c.955G>C	ENSP00000443028.1:p.Val319Leu
ENST00000570299.5:n.827G>C
ENST00000571987.5:c.1999G>C	ENSP00000458742.1:p.Val667Leu
ENST00000574436.5:c.1048G>C	ENSP00000460965.1:p.Val350Leu
ENST00000576518.1:n.6240G>C
NM_001123066.3:c.2053G>C	NP_001116538.2:p.Val685Leu
NM_001123067.3:c.961G>C	NP_001116539.1:p.Val321Leu
NM_001203251.1:c.868G>C	NP_001190180.1:p.Val290Leu
NM_001203252.1:c.955G>C	NP_001190181.1:p.Val319Leu
NM_005910.5:c.1048G>C	NP_005901.2:p.Val350Leu
NM_016834.4:c.874G>C	NP_058518.1:p.Val292Leu
NM_016835.4:c.1999G>C	NP_058519.3:p.Val667Leu
NM_016841.4:c.781G>C	NP_058525.1:p.Val261Leu
XM_005257362.3:c.2311G>C	XP_005257419.1:p.Val771Leu
XM_005257364.3:c.2224G>C	XP_005257421.1:p.Val742Leu
XM_005257365.3:c.2218G>C	XP_005257422.1:p.Val740Leu
XM_005257366.2:c.2137G>C	XP_005257423.1:p.Val713Leu
XM_005257367.3:c.2113G>C	XP_005257424.1:p.Val705Leu
XM_005257368.3:c.2020G>C	XP_005257425.1:p.Val674Leu
XM_005257369.3:c.1246G>C	XP_005257426.1:p.Val416Leu
XM_005257370.3:c.1159G>C	XP_005257427.1:p.Val387Leu
XM_005257371.3:c.1072G>C	XP_005257428.1:p.Val358Leu
XM_005257362.4:c.2311G>C	XP_005257419.1:p.Val771Leu
XM_005257364.4:c.2224G>C	XP_005257421.1:p.Val742Leu
XM_005257365.4:c.2218G>C	XP_005257422.1:p.Val740Leu
XM_005257366.3:c.2137G>C	XP_005257423.1:p.Val713Leu
XM_005257367.4:c.2113G>C	XP_005257424.1:p.Val705Leu
XM_005257368.4:c.2020G>C	XP_005257425.1:p.Val674Leu
XM_005257369.4:c.1246G>C	XP_005257426.1:p.Val416Leu
XM_005257370.4:c.1159G>C	XP_005257427.1:p.Val387Leu
XM_005257371.4:c.1072G>C	XP_005257428.1:p.Val358Leu
NM_001203251.2:c.868G>C	NP_001190180.1:p.Val290Leu
NM_001377265.1:c.2224G>C MANE Select	NP_001364194.1:p.Val742Leu
NM_001377266.1:c.1933G>C	NP_001364195.1:p.Val645Leu
NM_001377267.1:c.771+4390G>C	NP_001364196.1:n.771+4390G>C
NM_001377268.1:c.781G>C	NP_001364197.1:p.Val261Leu
NM_016834.5:c.874G>C	NP_058518.1:p.Val292Leu
NM_016841.5:c.781G>C	NP_058525.1:p.Val261Leu
NR_165166.1:n.879G>C
NM_001123066.4:c.2053G>C	NP_001116538.2:p.Val685Leu
NM_001123067.4:c.961G>C	NP_001116539.1:p.Val321Leu
NM_001203252.2:c.955G>C	NP_001190181.1:p.Val319Leu
NM_005910.6:c.1048G>C	NP_005901.2:p.Val350Leu
NM_016835.5:c.1999G>C	NP_058519.3:p.Val667Leu