Canonical Allele Identifier: CA399978367

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44073978A>G (hg19) ; chr17:g.45996612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996612A>G , CM000679.2:g.45996612A>G	GRCh38
NC_000017.10:g.44073978A>G , CM000679.1:g.44073978A>G	GRCh37
NC_000017.9:g.41429815A>G	NCBI36
NG_007398.1:g.107192A>G
NG_007398.2:g.107150A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.683A>G	ENSP00000413056.2:p.Lys228Arg
ENST00000703922.1:c.683A>G	ENSP00000515557.1:p.Lys228Arg
ENST00000703923.1:c.596A>G	ENSP00000515558.1:p.Lys199Arg
ENST00000703924.1:c.683A>G	ENSP00000515559.1:p.Lys228Arg
ENST00000703978.1:c.770A>G	ENSP00000515600.1:p.Lys257Arg
ENST00000703979.1:n.634A>G
ENST00000703980.1:n.2A>G
ENST00000262410.10:c.1946A>G MANE Select	ENSP00000262410.6:p.Lys649Arg
ENST00000344290.10:c.1748A>G	ENSP00000340820.6:p.Lys583Arg
ENST00000351559.10:c.770A>G	ENSP00000303214.7:p.Lys257Arg
ENST00000535772.6:c.683A>G	ENSP00000443028.2:p.Lys228Arg
ENST00000680542.1:c.683A>G	ENSP00000505258.1:p.Lys228Arg
ENST00000680674.1:c.596A>G	ENSP00000505478.1:p.Lys199Arg
ENST00000262410.9:c.1721A>G	ENSP00000262410.5:p.Lys574Arg
ENST00000334239.12:c.596A>G	ENSP00000334886.8:p.Lys199Arg
ENST00000340799.9:c.683A>G	ENSP00000340438.5:p.Lys228Arg
ENST00000344290.9:c.1775A>G	ENSP00000340820.5:p.Lys592Arg
ENST00000351559.9:c.770A>G	ENSP00000303214.7:p.Lys257Arg
ENST00000415613.6:c.1775A>G	ENSP00000410838.2:p.Lys592Arg
ENST00000420682.6:c.683A>G	ENSP00000413056.2:p.Lys228Arg
ENST00000431008.7:c.770A>G	ENSP00000389250.3:p.Lys257Arg
ENST00000446361.7:c.596A>G	ENSP00000408975.3:p.Lys199Arg
ENST00000535772.5:c.770A>G	ENSP00000443028.1:p.Lys257Arg
ENST00000570299.5:n.724A>G
ENST00000571987.5:c.1721A>G	ENSP00000458742.1:p.Lys574Arg
ENST00000574436.5:c.770A>G	ENSP00000460965.1:p.Lys257Arg
ENST00000576518.1:n.6055A>G
NM_001123066.3:c.1775A>G	NP_001116538.2:p.Lys592Arg
NM_001123067.3:c.683A>G	NP_001116539.1:p.Lys228Arg
NM_001203251.1:c.683A>G	NP_001190180.1:p.Lys228Arg
NM_001203252.1:c.770A>G	NP_001190181.1:p.Lys257Arg
NM_005910.5:c.770A>G	NP_005901.2:p.Lys257Arg
NM_016834.4:c.596A>G	NP_058518.1:p.Lys199Arg
NM_016835.4:c.1721A>G	NP_058519.3:p.Lys574Arg
NM_016841.4:c.596A>G	NP_058525.1:p.Lys199Arg
XM_005257362.3:c.2033A>G	XP_005257419.1:p.Lys678Arg
XM_005257364.3:c.1946A>G	XP_005257421.1:p.Lys649Arg
XM_005257365.3:c.2033A>G	XP_005257422.1:p.Lys678Arg
XM_005257366.2:c.1859A>G	XP_005257423.1:p.Lys620Arg
XM_005257367.3:c.1835A>G	XP_005257424.1:p.Lys612Arg
XM_005257368.3:c.1835A>G	XP_005257425.1:p.Lys612Arg
XM_005257369.3:c.968A>G	XP_005257426.1:p.Lys323Arg
XM_005257370.3:c.881A>G	XP_005257427.1:p.Lys294Arg
XM_005257371.3:c.794A>G	XP_005257428.1:p.Lys265Arg
XM_005257362.4:c.2033A>G	XP_005257419.1:p.Lys678Arg
XM_005257364.4:c.1946A>G	XP_005257421.1:p.Lys649Arg
XM_005257365.4:c.2033A>G	XP_005257422.1:p.Lys678Arg
XM_005257366.3:c.1859A>G	XP_005257423.1:p.Lys620Arg
XM_005257367.4:c.1835A>G	XP_005257424.1:p.Lys612Arg
XM_005257368.4:c.1835A>G	XP_005257425.1:p.Lys612Arg
XM_005257369.4:c.968A>G	XP_005257426.1:p.Lys323Arg
XM_005257370.4:c.881A>G	XP_005257427.1:p.Lys294Arg
XM_005257371.4:c.794A>G	XP_005257428.1:p.Lys265Arg
NM_001203251.2:c.683A>G	NP_001190180.1:p.Lys228Arg
NM_001377265.1:c.1946A>G MANE Select	NP_001364194.1:p.Lys649Arg
NM_001377266.1:c.1748A>G	NP_001364195.1:p.Lys583Arg
NM_001377267.1:c.683A>G	NP_001364196.1:p.Lys228Arg
NM_001377268.1:c.596A>G	NP_001364197.1:p.Lys199Arg
NM_016834.5:c.596A>G	NP_058518.1:p.Lys199Arg
NM_016841.5:c.596A>G	NP_058525.1:p.Lys199Arg
NR_165166.1:n.694A>G
NM_001123066.4:c.1775A>G	NP_001116538.2:p.Lys592Arg
NM_001123067.4:c.683A>G	NP_001116539.1:p.Lys228Arg
NM_001203252.2:c.770A>G	NP_001190181.1:p.Lys257Arg
NM_005910.6:c.770A>G	NP_005901.2:p.Lys257Arg
NM_016835.5:c.1721A>G	NP_058519.3:p.Lys574Arg