Canonical Allele Identifier: CA8618029

Gene: MAPT

Linked Data

• ClinVar Variation Id: 1623151
• ClinVar RCV Id: RCV002108786
• dbSNP Id: rs750316359
• ExAC: 17:44073799 C / T
• gnomAD v2: 17-44073799-C-T
• gnomAD v3: 17-45996433-C-T
• gnomAD v4: 17-45996433-C-T
• MyVariant Identifiers: chr17:g.44073799C>T (hg19) ; chr17:g.45996433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996433C>T , CM000679.2:g.45996433C>T	GRCh38
NC_000017.10:g.44073799C>T , CM000679.1:g.44073799C>T	GRCh37
NC_000017.9:g.41429636C>T	NCBI36
NG_007398.1:g.107013C>T
NG_007398.2:g.106971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.504C>T	ENSP00000413056.2:p.Tyr168=
ENST00000703922.1:c.504C>T	ENSP00000515557.1:p.Tyr168=
ENST00000703923.1:c.417C>T	ENSP00000515558.1:p.Tyr139=
ENST00000703924.1:c.504C>T	ENSP00000515559.1:p.Tyr168=
ENST00000703978.1:c.591C>T	ENSP00000515600.1:p.Tyr197=
ENST00000703979.1:n.455C>T
ENST00000262410.10:c.1767C>T MANE Select	ENSP00000262410.6:p.Tyr589=
ENST00000344290.10:c.1569C>T	ENSP00000340820.6:p.Tyr523=
ENST00000351559.10:c.591C>T	ENSP00000303214.7:p.Tyr197=
ENST00000535772.6:c.504C>T	ENSP00000443028.2:p.Tyr168=
ENST00000680542.1:c.504C>T	ENSP00000505258.1:p.Tyr168=
ENST00000680674.1:c.417C>T	ENSP00000505478.1:p.Tyr139=
ENST00000262410.9:c.1542C>T	ENSP00000262410.5:p.Tyr514=
ENST00000334239.12:c.417C>T	ENSP00000334886.8:p.Tyr139=
ENST00000340799.9:c.504C>T	ENSP00000340438.5:p.Tyr168=
ENST00000344290.9:c.1596C>T	ENSP00000340820.5:p.Tyr532=
ENST00000351559.9:c.591C>T	ENSP00000303214.7:p.Tyr197=
ENST00000415613.6:c.1596C>T	ENSP00000410838.2:p.Tyr532=
ENST00000420682.6:c.504C>T	ENSP00000413056.2:p.Tyr168=
ENST00000431008.7:c.591C>T	ENSP00000389250.3:p.Tyr197=
ENST00000446361.7:c.417C>T	ENSP00000408975.3:p.Tyr139=
ENST00000535772.5:c.591C>T	ENSP00000443028.1:p.Tyr197=
ENST00000570299.5:n.545C>T
ENST00000571987.5:c.1542C>T	ENSP00000458742.1:p.Tyr514=
ENST00000574436.5:c.591C>T	ENSP00000460965.1:p.Tyr197=
ENST00000576518.1:n.5876C>T
NM_001123066.3:c.1596C>T	NP_001116538.2:p.Tyr532=
NM_001123067.3:c.504C>T	NP_001116539.1:p.Tyr168=
NM_001203251.1:c.504C>T	NP_001190180.1:p.Tyr168=
NM_001203252.1:c.591C>T	NP_001190181.1:p.Tyr197=
NM_005910.5:c.591C>T	NP_005901.2:p.Tyr197=
NM_016834.4:c.417C>T	NP_058518.1:p.Tyr139=
NM_016835.4:c.1542C>T	NP_058519.3:p.Tyr514=
NM_016841.4:c.417C>T	NP_058525.1:p.Tyr139=
XM_005257362.3:c.1854C>T	XP_005257419.1:p.Tyr618=
XM_005257364.3:c.1767C>T	XP_005257421.1:p.Tyr589=
XM_005257365.3:c.1854C>T	XP_005257422.1:p.Tyr618=
XM_005257366.2:c.1680C>T	XP_005257423.1:p.Tyr560=
XM_005257367.3:c.1656C>T	XP_005257424.1:p.Tyr552=
XM_005257368.3:c.1656C>T	XP_005257425.1:p.Tyr552=
XM_005257369.3:c.789C>T	XP_005257426.1:p.Tyr263=
XM_005257370.3:c.702C>T	XP_005257427.1:p.Tyr234=
XM_005257371.3:c.615C>T	XP_005257428.1:p.Tyr205=
XM_005257362.4:c.1854C>T	XP_005257419.1:p.Tyr618=
XM_005257364.4:c.1767C>T	XP_005257421.1:p.Tyr589=
XM_005257365.4:c.1854C>T	XP_005257422.1:p.Tyr618=
XM_005257366.3:c.1680C>T	XP_005257423.1:p.Tyr560=
XM_005257367.4:c.1656C>T	XP_005257424.1:p.Tyr552=
XM_005257368.4:c.1656C>T	XP_005257425.1:p.Tyr552=
XM_005257369.4:c.789C>T	XP_005257426.1:p.Tyr263=
XM_005257370.4:c.702C>T	XP_005257427.1:p.Tyr234=
XM_005257371.4:c.615C>T	XP_005257428.1:p.Tyr205=
NM_001203251.2:c.504C>T	NP_001190180.1:p.Tyr168=
NM_001377265.1:c.1767C>T MANE Select	NP_001364194.1:p.Tyr589=
NM_001377266.1:c.1569C>T	NP_001364195.1:p.Tyr523=
NM_001377267.1:c.504C>T	NP_001364196.1:p.Tyr168=
NM_001377268.1:c.417C>T	NP_001364197.1:p.Tyr139=
NM_016834.5:c.417C>T	NP_058518.1:p.Tyr139=
NM_016841.5:c.417C>T	NP_058525.1:p.Tyr139=
NR_165166.1:n.591-76C>T
NM_001123066.4:c.1596C>T	NP_001116538.2:p.Tyr532=
NM_001123067.4:c.504C>T	NP_001116539.1:p.Tyr168=
NM_001203252.2:c.591C>T	NP_001190181.1:p.Tyr197=
NM_005910.6:c.591C>T	NP_005901.2:p.Tyr197=
NM_016835.5:c.1542C>T	NP_058519.3:p.Tyr514=