Canonical Allele Identifier: CA399983508

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44091651T>G (hg19) ; chr17:g.46014285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014285T>G , CM000679.2:g.46014285T>G	GRCh38
NC_000017.10:g.44091651T>G , CM000679.1:g.44091651T>G	GRCh37
NC_000017.9:g.41447488T>G	NCBI36
NG_007398.1:g.124865T>G
NG_007398.2:g.124823T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.871T>G	ENSP00000413056.2:p.Ser291Ala
ENST00000703922.1:c.871T>G	ENSP00000515557.1:p.Ser291Ala
ENST00000703923.1:c.784T>G	ENSP00000515558.1:p.Ser262Ala
ENST00000703924.1:c.871T>G	ENSP00000515559.1:p.Ser291Ala
ENST00000703978.1:c.958T>G	ENSP00000515600.1:p.Ser320Ala
ENST00000703979.1:n.729T>G
ENST00000703980.1:n.184T>G
ENST00000703981.1:n.127T>G
ENST00000262410.10:c.2134T>G MANE Select	ENSP00000262410.6:p.Ser712Ala
ENST00000344290.10:c.1843T>G	ENSP00000340820.6:p.Ser615Ala
ENST00000351559.10:c.958T>G	ENSP00000303214.7:p.Ser320Ala
ENST00000535772.6:c.778T>G	ENSP00000443028.2:p.Ser260Ala
ENST00000680542.1:c.871T>G	ENSP00000505258.1:p.Ser291Ala
ENST00000680674.1:c.784T>G	ENSP00000505478.1:p.Ser262Ala
ENST00000262410.9:c.1909T>G	ENSP00000262410.5:p.Ser637Ala
ENST00000334239.12:c.691T>G	ENSP00000334886.8:p.Ser231Ala
ENST00000340799.9:c.871T>G	ENSP00000340438.5:p.Ser291Ala
ENST00000344290.9:c.1963T>G	ENSP00000340820.5:p.Ser655Ala
ENST00000351559.9:c.958T>G	ENSP00000303214.7:p.Ser320Ala
ENST00000415613.6:c.1963T>G	ENSP00000410838.2:p.Ser655Ala
ENST00000420682.6:c.871T>G	ENSP00000413056.2:p.Ser291Ala
ENST00000431008.7:c.865T>G	ENSP00000389250.3:p.Ser289Ala
ENST00000446361.7:c.784T>G	ENSP00000408975.3:p.Ser262Ala
ENST00000535772.5:c.865T>G	ENSP00000443028.1:p.Ser289Ala
ENST00000570299.5:n.777-4333T>G
ENST00000571987.5:c.1909T>G	ENSP00000458742.1:p.Ser637Ala
ENST00000574436.5:c.958T>G	ENSP00000460965.1:p.Ser320Ala
ENST00000576518.1:n.6150T>G
NM_001123066.3:c.1963T>G	NP_001116538.2:p.Ser655Ala
NM_001123067.3:c.871T>G	NP_001116539.1:p.Ser291Ala
NM_001203251.1:c.778T>G	NP_001190180.1:p.Ser260Ala
NM_001203252.1:c.865T>G	NP_001190181.1:p.Ser289Ala
NM_005910.5:c.958T>G	NP_005901.2:p.Ser320Ala
NM_016834.4:c.784T>G	NP_058518.1:p.Ser262Ala
NM_016835.4:c.1909T>G	NP_058519.3:p.Ser637Ala
NM_016841.4:c.691T>G	NP_058525.1:p.Ser231Ala
XM_005257362.3:c.2221T>G	XP_005257419.1:p.Ser741Ala
XM_005257364.3:c.2134T>G	XP_005257421.1:p.Ser712Ala
XM_005257365.3:c.2128T>G	XP_005257422.1:p.Ser710Ala
XM_005257366.2:c.2047T>G	XP_005257423.1:p.Ser683Ala
XM_005257367.3:c.2023T>G	XP_005257424.1:p.Ser675Ala
XM_005257368.3:c.1930T>G	XP_005257425.1:p.Ser644Ala
XM_005257369.3:c.1156T>G	XP_005257426.1:p.Ser386Ala
XM_005257370.3:c.1069T>G	XP_005257427.1:p.Ser357Ala
XM_005257371.3:c.982T>G	XP_005257428.1:p.Ser328Ala
XM_005257362.4:c.2221T>G	XP_005257419.1:p.Ser741Ala
XM_005257364.4:c.2134T>G	XP_005257421.1:p.Ser712Ala
XM_005257365.4:c.2128T>G	XP_005257422.1:p.Ser710Ala
XM_005257366.3:c.2047T>G	XP_005257423.1:p.Ser683Ala
XM_005257367.4:c.2023T>G	XP_005257424.1:p.Ser675Ala
XM_005257368.4:c.1930T>G	XP_005257425.1:p.Ser644Ala
XM_005257369.4:c.1156T>G	XP_005257426.1:p.Ser386Ala
XM_005257370.4:c.1069T>G	XP_005257427.1:p.Ser357Ala
XM_005257371.4:c.982T>G	XP_005257428.1:p.Ser328Ala
NM_001203251.2:c.778T>G	NP_001190180.1:p.Ser260Ala
NM_001377265.1:c.2134T>G MANE Select	NP_001364194.1:p.Ser712Ala
NM_001377266.1:c.1843T>G	NP_001364195.1:p.Ser615Ala
NM_001377267.1:c.771+7T>G	NP_001364196.1:n.771+7T>G
NM_001377268.1:c.691T>G	NP_001364197.1:p.Ser231Ala
NM_016834.5:c.784T>G	NP_058518.1:p.Ser262Ala
NM_016841.5:c.691T>G	NP_058525.1:p.Ser231Ala
NR_165166.1:n.789T>G
NM_001123066.4:c.1963T>G	NP_001116538.2:p.Ser655Ala
NM_001123067.4:c.871T>G	NP_001116539.1:p.Ser291Ala
NM_001203252.2:c.865T>G	NP_001190181.1:p.Ser289Ala
NM_005910.6:c.958T>G	NP_005901.2:p.Ser320Ala
NM_016835.5:c.1909T>G	NP_058519.3:p.Ser637Ala