Canonical Allele Identifier: CA399977223

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44067295C>G (hg19) ; chr17:g.45989929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45989929C>G , CM000679.2:g.45989929C>G	GRCh38
NC_000017.10:g.44067295C>G , CM000679.1:g.44067295C>G	GRCh37
NC_000017.9:g.41423132C>G	NCBI36
NG_007398.1:g.100509C>G
NG_007398.2:g.100467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.343-1531C>G	ENSP00000413056.2:n.343-1531C>G
ENST00000703922.1:c.343-1531C>G	ENSP00000515557.1:n.343-1531C>G
ENST00000703923.1:c.256-1531C>G	ENSP00000515558.1:n.256-1531C>G
ENST00000703924.1:c.343-1531C>G	ENSP00000515559.1:n.343-1531C>G
ENST00000703977.1:n.348C>G
ENST00000703978.1:c.430-1531C>G	ENSP00000515600.1:n.430-1531C>G
ENST00000703979.1:n.294-1531C>G
ENST00000262410.10:c.1459C>G MANE Select	ENSP00000262410.6:p.Pro487Ala
ENST00000344290.10:c.1408-1531C>G	ENSP00000340820.6:n.1408-1531C>G
ENST00000351559.10:c.430-1531C>G	ENSP00000303214.7:n.430-1531C>G
ENST00000535772.6:c.343-1531C>G	ENSP00000443028.2:n.343-1531C>G
ENST00000680542.1:c.343-1531C>G	ENSP00000505258.1:n.343-1531C>G
ENST00000680674.1:c.256-1531C>G	ENSP00000505478.1:n.256-1531C>G
ENST00000262410.9:c.1234C>G	ENSP00000262410.5:p.Pro412Ala
ENST00000334239.12:c.256-1531C>G	ENSP00000334886.8:n.256-1531C>G
ENST00000340799.9:c.343-1531C>G	ENSP00000340438.5:n.343-1531C>G
ENST00000344290.9:c.1234C>G	ENSP00000340820.5:p.Pro412Ala
ENST00000351559.9:c.430-1531C>G	ENSP00000303214.7:n.430-1531C>G
ENST00000415613.6:c.1234C>G	ENSP00000410838.2:p.Pro412Ala
ENST00000420682.6:c.343-1531C>G	ENSP00000413056.2:n.343-1531C>G
ENST00000431008.7:c.430-1531C>G	ENSP00000389250.3:n.430-1531C>G
ENST00000446361.7:c.256-1531C>G	ENSP00000408975.3:n.256-1531C>G
ENST00000535772.5:c.430-1531C>G	ENSP00000443028.1:n.430-1531C>G
ENST00000570299.5:n.384-1531C>G
ENST00000571987.5:c.1234C>G	ENSP00000458742.1:p.Pro412Ala
ENST00000574436.5:c.430-1531C>G	ENSP00000460965.1:n.430-1531C>G
ENST00000576518.1:n.5715-1531C>G
NM_001123066.3:c.1234C>G	NP_001116538.2:p.Pro412Ala
NM_001123067.3:c.343-1531C>G	NP_001116539.1:n.343-1531C>G
NM_001203251.1:c.343-1531C>G	NP_001190180.1:n.343-1531C>G
NM_001203252.1:c.430-1531C>G	NP_001190181.1:n.430-1531C>G
NM_005910.5:c.430-1531C>G	NP_005901.2:n.430-1531C>G
NM_016834.4:c.256-1531C>G	NP_058518.1:n.256-1531C>G
NM_016835.4:c.1234C>G	NP_058519.3:p.Pro412Ala
NM_016841.4:c.256-1531C>G	NP_058525.1:n.256-1531C>G
XM_005257362.3:c.1546C>G	XP_005257419.1:p.Pro516Ala
XM_005257364.3:c.1459C>G	XP_005257421.1:p.Pro487Ala
XM_005257365.3:c.1546C>G	XP_005257422.1:p.Pro516Ala
XM_005257366.2:c.1372C>G	XP_005257423.1:p.Pro458Ala
XM_005257367.3:c.1495-1531C>G	XP_005257424.1:n.1495-1531C>G
XM_005257368.3:c.1495-1531C>G	XP_005257425.1:n.1495-1531C>G
XM_005257369.3:c.481C>G	XP_005257426.1:p.Pro161Ala
XM_005257370.3:c.394C>G	XP_005257427.1:p.Pro132Ala
XM_005257371.3:c.307C>G	XP_005257428.1:p.Pro103Ala
XM_005257362.4:c.1546C>G	XP_005257419.1:p.Pro516Ala
XM_005257364.4:c.1459C>G	XP_005257421.1:p.Pro487Ala
XM_005257365.4:c.1546C>G	XP_005257422.1:p.Pro516Ala
XM_005257366.3:c.1372C>G	XP_005257423.1:p.Pro458Ala
XM_005257367.4:c.1495-1531C>G	XP_005257424.1:n.1495-1531C>G
XM_005257368.4:c.1495-1531C>G	XP_005257425.1:n.1495-1531C>G
XM_005257369.4:c.481C>G	XP_005257426.1:p.Pro161Ala
XM_005257370.4:c.394C>G	XP_005257427.1:p.Pro132Ala
XM_005257371.4:c.307C>G	XP_005257428.1:p.Pro103Ala
NM_001203251.2:c.343-1531C>G	NP_001190180.1:n.343-1531C>G
NM_001377265.1:c.1459C>G MANE Select	NP_001364194.1:p.Pro487Ala
NM_001377266.1:c.1408-1531C>G	NP_001364195.1:n.1408-1531C>G
NM_001377267.1:c.343-1531C>G	NP_001364196.1:n.343-1531C>G
NM_001377268.1:c.256-1531C>G	NP_001364197.1:n.256-1531C>G
NM_016834.5:c.256-1531C>G	NP_058518.1:n.256-1531C>G
NM_016841.5:c.256-1531C>G	NP_058525.1:n.256-1531C>G
NR_165166.1:n.493-1531C>G
NM_001123066.4:c.1234C>G	NP_001116538.2:p.Pro412Ala
NM_001123067.4:c.343-1531C>G	NP_001116539.1:n.343-1531C>G
NM_001203252.2:c.430-1531C>G	NP_001190181.1:n.430-1531C>G
NM_005910.6:c.430-1531C>G	NP_005901.2:n.430-1531C>G
NM_016835.5:c.1234C>G	NP_058519.3:p.Pro412Ala