Canonical Allele Identifier: CA399983489

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44091642A>C (hg19) ; chr17:g.46014276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014276A>C , CM000679.2:g.46014276A>C	GRCh38
NC_000017.10:g.44091642A>C , CM000679.1:g.44091642A>C	GRCh37
NC_000017.9:g.41447479A>C	NCBI36
NG_007398.1:g.124856A>C
NG_007398.2:g.124814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.862A>C	ENSP00000413056.2:p.Lys288Gln
ENST00000703922.1:c.862A>C	ENSP00000515557.1:p.Lys288Gln
ENST00000703923.1:c.775A>C	ENSP00000515558.1:p.Lys259Gln
ENST00000703924.1:c.862A>C	ENSP00000515559.1:p.Lys288Gln
ENST00000703978.1:c.949A>C	ENSP00000515600.1:p.Lys317Gln
ENST00000703979.1:n.720A>C
ENST00000703980.1:n.175A>C
ENST00000703981.1:n.118A>C
ENST00000262410.10:c.2125A>C MANE Select	ENSP00000262410.6:p.Lys709Gln
ENST00000344290.10:c.1834A>C	ENSP00000340820.6:p.Lys612Gln
ENST00000351559.10:c.949A>C	ENSP00000303214.7:p.Lys317Gln
ENST00000535772.6:c.769A>C	ENSP00000443028.2:p.Lys257Gln
ENST00000680542.1:c.862A>C	ENSP00000505258.1:p.Lys288Gln
ENST00000680674.1:c.775A>C	ENSP00000505478.1:p.Lys259Gln
ENST00000262410.9:c.1900A>C	ENSP00000262410.5:p.Lys634Gln
ENST00000334239.12:c.682A>C	ENSP00000334886.8:p.Lys228Gln
ENST00000340799.9:c.862A>C	ENSP00000340438.5:p.Lys288Gln
ENST00000344290.9:c.1954A>C	ENSP00000340820.5:p.Lys652Gln
ENST00000351559.9:c.949A>C	ENSP00000303214.7:p.Lys317Gln
ENST00000415613.6:c.1954A>C	ENSP00000410838.2:p.Lys652Gln
ENST00000420682.6:c.862A>C	ENSP00000413056.2:p.Lys288Gln
ENST00000431008.7:c.856A>C	ENSP00000389250.3:p.Lys286Gln
ENST00000446361.7:c.775A>C	ENSP00000408975.3:p.Lys259Gln
ENST00000535772.5:c.856A>C	ENSP00000443028.1:p.Lys286Gln
ENST00000570299.5:n.777-4342A>C
ENST00000571987.5:c.1900A>C	ENSP00000458742.1:p.Lys634Gln
ENST00000574436.5:c.949A>C	ENSP00000460965.1:p.Lys317Gln
ENST00000576518.1:n.6141A>C
NM_001123066.3:c.1954A>C	NP_001116538.2:p.Lys652Gln
NM_001123067.3:c.862A>C	NP_001116539.1:p.Lys288Gln
NM_001203251.1:c.769A>C	NP_001190180.1:p.Lys257Gln
NM_001203252.1:c.856A>C	NP_001190181.1:p.Lys286Gln
NM_005910.5:c.949A>C	NP_005901.2:p.Lys317Gln
NM_016834.4:c.775A>C	NP_058518.1:p.Lys259Gln
NM_016835.4:c.1900A>C	NP_058519.3:p.Lys634Gln
NM_016841.4:c.682A>C	NP_058525.1:p.Lys228Gln
XM_005257362.3:c.2212A>C	XP_005257419.1:p.Lys738Gln
XM_005257364.3:c.2125A>C	XP_005257421.1:p.Lys709Gln
XM_005257365.3:c.2119A>C	XP_005257422.1:p.Lys707Gln
XM_005257366.2:c.2038A>C	XP_005257423.1:p.Lys680Gln
XM_005257367.3:c.2014A>C	XP_005257424.1:p.Lys672Gln
XM_005257368.3:c.1921A>C	XP_005257425.1:p.Lys641Gln
XM_005257369.3:c.1147A>C	XP_005257426.1:p.Lys383Gln
XM_005257370.3:c.1060A>C	XP_005257427.1:p.Lys354Gln
XM_005257371.3:c.973A>C	XP_005257428.1:p.Lys325Gln
XM_005257362.4:c.2212A>C	XP_005257419.1:p.Lys738Gln
XM_005257364.4:c.2125A>C	XP_005257421.1:p.Lys709Gln
XM_005257365.4:c.2119A>C	XP_005257422.1:p.Lys707Gln
XM_005257366.3:c.2038A>C	XP_005257423.1:p.Lys680Gln
XM_005257367.4:c.2014A>C	XP_005257424.1:p.Lys672Gln
XM_005257368.4:c.1921A>C	XP_005257425.1:p.Lys641Gln
XM_005257369.4:c.1147A>C	XP_005257426.1:p.Lys383Gln
XM_005257370.4:c.1060A>C	XP_005257427.1:p.Lys354Gln
XM_005257371.4:c.973A>C	XP_005257428.1:p.Lys325Gln
NM_001203251.2:c.769A>C	NP_001190180.1:p.Lys257Gln
NM_001377265.1:c.2125A>C MANE Select	NP_001364194.1:p.Lys709Gln
NM_001377266.1:c.1834A>C	NP_001364195.1:p.Lys612Gln
NM_001377267.1:c.769A>C	NP_001364196.1:p.Lys257Gln
NM_001377268.1:c.682A>C	NP_001364197.1:p.Lys228Gln
NM_016834.5:c.775A>C	NP_058518.1:p.Lys259Gln
NM_016841.5:c.682A>C	NP_058525.1:p.Lys228Gln
NR_165166.1:n.780A>C
NM_001123066.4:c.1954A>C	NP_001116538.2:p.Lys652Gln
NM_001123067.4:c.862A>C	NP_001116539.1:p.Lys288Gln
NM_001203252.2:c.856A>C	NP_001190181.1:p.Lys286Gln
NM_005910.6:c.949A>C	NP_005901.2:p.Lys317Gln
NM_016835.5:c.1900A>C	NP_058519.3:p.Lys634Gln