Canonical Allele Identifier: CA399978199

Gene: MAPT

Linked Data

• dbSNP Id: rs1355695098
• gnomAD v2: 17-44073897-G-A
• gnomAD v4: 17-45996531-G-A
• MyVariant Identifiers: chr17:g.44073897G>A (hg19) ; chr17:g.45996531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996531G>A , CM000679.2:g.45996531G>A	GRCh38
NC_000017.10:g.44073897G>A , CM000679.1:g.44073897G>A	GRCh37
NC_000017.9:g.41429734G>A	NCBI36
NG_007398.1:g.107111G>A
NG_007398.2:g.107069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.602G>A	ENSP00000413056.2:p.Arg201His
ENST00000703922.1:c.602G>A	ENSP00000515557.1:p.Arg201His
ENST00000703923.1:c.515G>A	ENSP00000515558.1:p.Arg172His
ENST00000703924.1:c.602G>A	ENSP00000515559.1:p.Arg201His
ENST00000703978.1:c.689G>A	ENSP00000515600.1:p.Arg230His
ENST00000703979.1:n.553G>A
ENST00000262410.10:c.1865G>A MANE Select	ENSP00000262410.6:p.Arg622His
ENST00000344290.10:c.1667G>A	ENSP00000340820.6:p.Arg556His
ENST00000351559.10:c.689G>A	ENSP00000303214.7:p.Arg230His
ENST00000535772.6:c.602G>A	ENSP00000443028.2:p.Arg201His
ENST00000680542.1:c.602G>A	ENSP00000505258.1:p.Arg201His
ENST00000680674.1:c.515G>A	ENSP00000505478.1:p.Arg172His
ENST00000262410.9:c.1640G>A	ENSP00000262410.5:p.Arg547His
ENST00000334239.12:c.515G>A	ENSP00000334886.8:p.Arg172His
ENST00000340799.9:c.602G>A	ENSP00000340438.5:p.Arg201His
ENST00000344290.9:c.1694G>A	ENSP00000340820.5:p.Arg565His
ENST00000351559.9:c.689G>A	ENSP00000303214.7:p.Arg230His
ENST00000415613.6:c.1694G>A	ENSP00000410838.2:p.Arg565His
ENST00000420682.6:c.602G>A	ENSP00000413056.2:p.Arg201His
ENST00000431008.7:c.689G>A	ENSP00000389250.3:p.Arg230His
ENST00000446361.7:c.515G>A	ENSP00000408975.3:p.Arg172His
ENST00000535772.5:c.689G>A	ENSP00000443028.1:p.Arg230His
ENST00000570299.5:n.643G>A
ENST00000571987.5:c.1640G>A	ENSP00000458742.1:p.Arg547His
ENST00000574436.5:c.689G>A	ENSP00000460965.1:p.Arg230His
ENST00000576518.1:n.5974G>A
NM_001123066.3:c.1694G>A	NP_001116538.2:p.Arg565His
NM_001123067.3:c.602G>A	NP_001116539.1:p.Arg201His
NM_001203251.1:c.602G>A	NP_001190180.1:p.Arg201His
NM_001203252.1:c.689G>A	NP_001190181.1:p.Arg230His
NM_005910.5:c.689G>A	NP_005901.2:p.Arg230His
NM_016834.4:c.515G>A	NP_058518.1:p.Arg172His
NM_016835.4:c.1640G>A	NP_058519.3:p.Arg547His
NM_016841.4:c.515G>A	NP_058525.1:p.Arg172His
XM_005257362.3:c.1952G>A	XP_005257419.1:p.Arg651His
XM_005257364.3:c.1865G>A	XP_005257421.1:p.Arg622His
XM_005257365.3:c.1952G>A	XP_005257422.1:p.Arg651His
XM_005257366.2:c.1778G>A	XP_005257423.1:p.Arg593His
XM_005257367.3:c.1754G>A	XP_005257424.1:p.Arg585His
XM_005257368.3:c.1754G>A	XP_005257425.1:p.Arg585His
XM_005257369.3:c.887G>A	XP_005257426.1:p.Arg296His
XM_005257370.3:c.800G>A	XP_005257427.1:p.Arg267His
XM_005257371.3:c.713G>A	XP_005257428.1:p.Arg238His
XM_005257362.4:c.1952G>A	XP_005257419.1:p.Arg651His
XM_005257364.4:c.1865G>A	XP_005257421.1:p.Arg622His
XM_005257365.4:c.1952G>A	XP_005257422.1:p.Arg651His
XM_005257366.3:c.1778G>A	XP_005257423.1:p.Arg593His
XM_005257367.4:c.1754G>A	XP_005257424.1:p.Arg585His
XM_005257368.4:c.1754G>A	XP_005257425.1:p.Arg585His
XM_005257369.4:c.887G>A	XP_005257426.1:p.Arg296His
XM_005257370.4:c.800G>A	XP_005257427.1:p.Arg267His
XM_005257371.4:c.713G>A	XP_005257428.1:p.Arg238His
NM_001203251.2:c.602G>A	NP_001190180.1:p.Arg201His
NM_001377265.1:c.1865G>A MANE Select	NP_001364194.1:p.Arg622His
NM_001377266.1:c.1667G>A	NP_001364195.1:p.Arg556His
NM_001377267.1:c.602G>A	NP_001364196.1:p.Arg201His
NM_001377268.1:c.515G>A	NP_001364197.1:p.Arg172His
NM_016834.5:c.515G>A	NP_058518.1:p.Arg172His
NM_016841.5:c.515G>A	NP_058525.1:p.Arg172His
NR_165166.1:n.613G>A
NM_001123066.4:c.1694G>A	NP_001116538.2:p.Arg565His
NM_001123067.4:c.602G>A	NP_001116539.1:p.Arg201His
NM_001203252.2:c.689G>A	NP_001190181.1:p.Arg230His
NM_005910.6:c.689G>A	NP_005901.2:p.Arg230His
NM_016835.5:c.1640G>A	NP_058519.3:p.Arg547His