Canonical Allele Identifier: CA8618250

Gene: MAPT

Linked Data

• dbSNP Id: rs770355763
• ExAC: 17:44101358 A / G
• gnomAD v2: 17-44101358-A-G
• MyVariant Identifiers: chr17:g.44101358A>G (hg19) ; chr17:g.46023992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023992A>G , CM000679.2:g.46023992A>G	GRCh38
NC_000017.10:g.44101358A>G , CM000679.1:g.44101358A>G	GRCh37
NC_000017.9:g.41457203A>G	NCBI36
NG_007398.1:g.134580A>G
NG_007398.2:g.134530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.1060A>G	ENSP00000413056.2:p.Lys354Glu
ENST00000703922.1:c.1060A>G	ENSP00000515557.1:p.Lys354Glu
ENST00000703923.1:c.973A>G	ENSP00000515558.1:p.Lys325Glu
ENST00000703924.1:c.1060A>G	ENSP00000515559.1:p.Lys354Glu
ENST00000703978.1:c.1147A>G	ENSP00000515600.1:p.Lys383Glu
ENST00000703980.1:n.373A>G
ENST00000703981.1:n.331A>G
ENST00000703982.1:n.565A>G
ENST00000262410.10:c.2323A>G MANE Select	ENSP00000262410.6:p.Lys775Glu
ENST00000344290.10:c.2032A>G	ENSP00000340820.6:p.Lys678Glu
ENST00000351559.10:c.1147A>G	ENSP00000303214.7:p.Lys383Glu
ENST00000535772.6:c.967A>G	ENSP00000443028.2:p.Lys323Glu
ENST00000680542.1:c.1060A>G	ENSP00000505258.1:p.Lys354Glu
ENST00000680674.1:c.1096A>G	ENSP00000505478.1:p.Lys366Glu
ENST00000262410.9:c.2098A>G	ENSP00000262410.5:p.Lys700Glu
ENST00000334239.12:c.880A>G	ENSP00000334886.8:p.Lys294Glu
ENST00000340799.9:c.1060A>G	ENSP00000340438.5:p.Lys354Glu
ENST00000344290.9:c.2152A>G	ENSP00000340820.5:p.Lys718Glu
ENST00000351559.9:c.1147A>G	ENSP00000303214.7:p.Lys383Glu
ENST00000415613.6:c.2152A>G	ENSP00000410838.2:p.Lys718Glu
ENST00000420682.6:c.1060A>G	ENSP00000413056.2:p.Lys354Glu
ENST00000431008.7:c.1054A>G	ENSP00000389250.3:p.Lys352Glu
ENST00000446361.7:c.973A>G	ENSP00000408975.3:p.Lys325Glu
ENST00000535772.5:c.1054A>G	ENSP00000443028.1:p.Lys352Glu
ENST00000571987.5:c.2098A>G	ENSP00000458742.1:p.Lys700Glu
ENST00000574436.5:c.1147A>G	ENSP00000460965.1:p.Lys383Glu
ENST00000576518.1:n.6339A>G
NM_001123066.3:c.2152A>G	NP_001116538.2:p.Lys718Glu
NM_001123067.3:c.1060A>G	NP_001116539.1:p.Lys354Glu
NM_001203251.1:c.967A>G	NP_001190180.1:p.Lys323Glu
NM_001203252.1:c.1054A>G	NP_001190181.1:p.Lys352Glu
NM_005910.5:c.1147A>G	NP_005901.2:p.Lys383Glu
NM_016834.4:c.973A>G	NP_058518.1:p.Lys325Glu
NM_016835.4:c.2098A>G	NP_058519.3:p.Lys700Glu
NM_016841.4:c.880A>G	NP_058525.1:p.Lys294Glu
XM_005257362.3:c.2410A>G	XP_005257419.1:p.Lys804Glu
XM_005257364.3:c.2323A>G	XP_005257421.1:p.Lys775Glu
XM_005257365.3:c.2317A>G	XP_005257422.1:p.Lys773Glu
XM_005257366.2:c.2236A>G	XP_005257423.1:p.Lys746Glu
XM_005257367.3:c.2212A>G	XP_005257424.1:p.Lys738Glu
XM_005257368.3:c.2119A>G	XP_005257425.1:p.Lys707Glu
XM_005257369.3:c.1345A>G	XP_005257426.1:p.Lys449Glu
XM_005257370.3:c.1258A>G	XP_005257427.1:p.Lys420Glu
XM_005257371.3:c.1171A>G	XP_005257428.1:p.Lys391Glu
XM_005257362.4:c.2410A>G	XP_005257419.1:p.Lys804Glu
XM_005257364.4:c.2323A>G	XP_005257421.1:p.Lys775Glu
XM_005257365.4:c.2317A>G	XP_005257422.1:p.Lys773Glu
XM_005257366.3:c.2236A>G	XP_005257423.1:p.Lys746Glu
XM_005257367.4:c.2212A>G	XP_005257424.1:p.Lys738Glu
XM_005257368.4:c.2119A>G	XP_005257425.1:p.Lys707Glu
XM_005257369.4:c.1345A>G	XP_005257426.1:p.Lys449Glu
XM_005257370.4:c.1258A>G	XP_005257427.1:p.Lys420Glu
XM_005257371.4:c.1171A>G	XP_005257428.1:p.Lys391Glu
NM_001203251.2:c.967A>G	NP_001190180.1:p.Lys323Glu
NM_001377265.1:c.2323A>G MANE Select	NP_001364194.1:p.Lys775Glu
NM_001377266.1:c.2032A>G	NP_001364195.1:p.Lys678Glu
NM_001377267.1:c.772-1125A>G	NP_001364196.1:n.772-1125A>G
NM_001377268.1:c.880A>G	NP_001364197.1:p.Lys294Glu
NM_016834.5:c.973A>G	NP_058518.1:p.Lys325Glu
NM_016841.5:c.880A>G	NP_058525.1:p.Lys294Glu
NR_165166.1:n.978A>G
NM_001123066.4:c.2152A>G	NP_001116538.2:p.Lys718Glu
NM_001123067.4:c.1060A>G	NP_001116539.1:p.Lys354Glu
NM_001203252.2:c.1054A>G	NP_001190181.1:p.Lys352Glu
NM_005910.6:c.1147A>G	NP_005901.2:p.Lys383Glu
NM_016835.5:c.2098A>G	NP_058519.3:p.Lys700Glu