Canonical Allele Identifier: CA225473

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14268
• ClinVar RCV Id: RCV000015338 ; RCV000084543
• dbSNP Id: rs63750092
• MyVariant Identifiers: chr17:g.44091643A>T (hg19) ; chr17:g.46014277A>T (hg38)
• PubMed: PMID:15883319

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014277A>T , CM000679.2:g.46014277A>T	GRCh38
NC_000017.10:g.44091643A>T , CM000679.1:g.44091643A>T	GRCh37
NC_000017.9:g.41447480A>T	NCBI36
NG_007398.1:g.124857A>T
NG_007398.2:g.124815A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.863A>T	ENSP00000413056.2:p.Lys288Met
ENST00000703922.1:c.863A>T	ENSP00000515557.1:p.Lys288Met
ENST00000703923.1:c.776A>T	ENSP00000515558.1:p.Lys259Met
ENST00000703924.1:c.863A>T	ENSP00000515559.1:p.Lys288Met
ENST00000703978.1:c.950A>T	ENSP00000515600.1:p.Lys317Met
ENST00000703979.1:n.721A>T
ENST00000703980.1:n.176A>T
ENST00000703981.1:n.119A>T
ENST00000262410.10:c.2126A>T MANE Select	ENSP00000262410.6:p.Lys709Met
ENST00000344290.10:c.1835A>T	ENSP00000340820.6:p.Lys612Met
ENST00000351559.10:c.950A>T	ENSP00000303214.7:p.Lys317Met
ENST00000535772.6:c.770A>T	ENSP00000443028.2:p.Lys257Met
ENST00000680542.1:c.863A>T	ENSP00000505258.1:p.Lys288Met
ENST00000680674.1:c.776A>T	ENSP00000505478.1:p.Lys259Met
ENST00000262410.9:c.1901A>T	ENSP00000262410.5:p.Lys634Met
ENST00000334239.12:c.683A>T	ENSP00000334886.8:p.Lys228Met
ENST00000340799.9:c.863A>T	ENSP00000340438.5:p.Lys288Met
ENST00000344290.9:c.1955A>T	ENSP00000340820.5:p.Lys652Met
ENST00000351559.9:c.950A>T	ENSP00000303214.7:p.Lys317Met
ENST00000415613.6:c.1955A>T	ENSP00000410838.2:p.Lys652Met
ENST00000420682.6:c.863A>T	ENSP00000413056.2:p.Lys288Met
ENST00000431008.7:c.857A>T	ENSP00000389250.3:p.Lys286Met
ENST00000446361.7:c.776A>T	ENSP00000408975.3:p.Lys259Met
ENST00000535772.5:c.857A>T	ENSP00000443028.1:p.Lys286Met
ENST00000570299.5:n.777-4341A>T
ENST00000571987.5:c.1901A>T	ENSP00000458742.1:p.Lys634Met
ENST00000574436.5:c.950A>T	ENSP00000460965.1:p.Lys317Met
ENST00000576518.1:n.6142A>T
NM_001123066.3:c.1955A>T	NP_001116538.2:p.Lys652Met
NM_001123067.3:c.863A>T	NP_001116539.1:p.Lys288Met
NM_001203251.1:c.770A>T	NP_001190180.1:p.Lys257Met
NM_001203252.1:c.857A>T	NP_001190181.1:p.Lys286Met
NM_005910.5:c.950A>T	NP_005901.2:p.Lys317Met
NM_016834.4:c.776A>T	NP_058518.1:p.Lys259Met
NM_016835.4:c.1901A>T	NP_058519.3:p.Lys634Met
NM_016841.4:c.683A>T	NP_058525.1:p.Lys228Met
XM_005257362.3:c.2213A>T	XP_005257419.1:p.Lys738Met
XM_005257364.3:c.2126A>T	XP_005257421.1:p.Lys709Met
XM_005257365.3:c.2120A>T	XP_005257422.1:p.Lys707Met
XM_005257366.2:c.2039A>T	XP_005257423.1:p.Lys680Met
XM_005257367.3:c.2015A>T	XP_005257424.1:p.Lys672Met
XM_005257368.3:c.1922A>T	XP_005257425.1:p.Lys641Met
XM_005257369.3:c.1148A>T	XP_005257426.1:p.Lys383Met
XM_005257370.3:c.1061A>T	XP_005257427.1:p.Lys354Met
XM_005257371.3:c.974A>T	XP_005257428.1:p.Lys325Met
XM_005257362.4:c.2213A>T	XP_005257419.1:p.Lys738Met
XM_005257364.4:c.2126A>T	XP_005257421.1:p.Lys709Met
XM_005257365.4:c.2120A>T	XP_005257422.1:p.Lys707Met
XM_005257366.3:c.2039A>T	XP_005257423.1:p.Lys680Met
XM_005257367.4:c.2015A>T	XP_005257424.1:p.Lys672Met
XM_005257368.4:c.1922A>T	XP_005257425.1:p.Lys641Met
XM_005257369.4:c.1148A>T	XP_005257426.1:p.Lys383Met
XM_005257370.4:c.1061A>T	XP_005257427.1:p.Lys354Met
XM_005257371.4:c.974A>T	XP_005257428.1:p.Lys325Met
NM_001203251.2:c.770A>T	NP_001190180.1:p.Lys257Met
NM_001377265.1:c.2126A>T MANE Select	NP_001364194.1:p.Lys709Met
NM_001377266.1:c.1835A>T	NP_001364195.1:p.Lys612Met
NM_001377267.1:c.770A>T	NP_001364196.1:p.Lys257Met
NM_001377268.1:c.683A>T	NP_001364197.1:p.Lys228Met
NM_016834.5:c.776A>T	NP_058518.1:p.Lys259Met
NM_016841.5:c.683A>T	NP_058525.1:p.Lys228Met
NR_165166.1:n.781A>T
NM_001123066.4:c.1955A>T	NP_001116538.2:p.Lys652Met
NM_001123067.4:c.863A>T	NP_001116539.1:p.Lys288Met
NM_001203252.2:c.857A>T	NP_001190181.1:p.Lys286Met
NM_005910.6:c.950A>T	NP_005901.2:p.Lys317Met
NM_016835.5:c.1901A>T	NP_058519.3:p.Lys634Met