Canonical Allele Identifier: CA225421

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14246
• ClinVar RCV Id: RCV000015315 ; RCV000084519
• dbSNP Id: rs63750376
• MyVariant Identifiers: chr17:g.44074023G>T (hg19) ; chr17:g.45996657G>T (hg38)
• PubMed: PMID:10767321 ; PMID:11402146

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996657G>T , CM000679.2:g.45996657G>T	GRCh38
NC_000017.10:g.44074023G>T , CM000679.1:g.44074023G>T	GRCh37
NC_000017.9:g.41429860G>T	NCBI36
NG_007398.1:g.107237G>T
NG_007398.2:g.107195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.728G>T	ENSP00000413056.2:p.Gly243Val
ENST00000703922.1:c.728G>T	ENSP00000515557.1:p.Gly243Val
ENST00000703923.1:c.641G>T	ENSP00000515558.1:p.Gly214Val
ENST00000703924.1:c.728G>T	ENSP00000515559.1:p.Gly243Val
ENST00000703978.1:c.815G>T	ENSP00000515600.1:p.Gly272Val
ENST00000703979.1:n.679G>T
ENST00000703980.1:n.47G>T
ENST00000262410.10:c.1991G>T MANE Select	ENSP00000262410.6:p.Gly664Val
ENST00000344290.10:c.1793G>T	ENSP00000340820.6:p.Gly598Val
ENST00000351559.10:c.815G>T	ENSP00000303214.7:p.Gly272Val
ENST00000535772.6:c.728G>T	ENSP00000443028.2:p.Gly243Val
ENST00000680542.1:c.728G>T	ENSP00000505258.1:p.Gly243Val
ENST00000680674.1:c.641G>T	ENSP00000505478.1:p.Gly214Val
ENST00000262410.9:c.1766G>T	ENSP00000262410.5:p.Gly589Val
ENST00000334239.12:c.641G>T	ENSP00000334886.8:p.Gly214Val
ENST00000340799.9:c.728G>T	ENSP00000340438.5:p.Gly243Val
ENST00000344290.9:c.1820G>T	ENSP00000340820.5:p.Gly607Val
ENST00000351559.9:c.815G>T	ENSP00000303214.7:p.Gly272Val
ENST00000415613.6:c.1820G>T	ENSP00000410838.2:p.Gly607Val
ENST00000420682.6:c.728G>T	ENSP00000413056.2:p.Gly243Val
ENST00000431008.7:c.815G>T	ENSP00000389250.3:p.Gly272Val
ENST00000446361.7:c.641G>T	ENSP00000408975.3:p.Gly214Val
ENST00000535772.5:c.815G>T	ENSP00000443028.1:p.Gly272Val
ENST00000570299.5:n.769G>T
ENST00000571987.5:c.1766G>T	ENSP00000458742.1:p.Gly589Val
ENST00000574436.5:c.815G>T	ENSP00000460965.1:p.Gly272Val
ENST00000576518.1:n.6100G>T
NM_001123066.3:c.1820G>T	NP_001116538.2:p.Gly607Val
NM_001123067.3:c.728G>T	NP_001116539.1:p.Gly243Val
NM_001203251.1:c.728G>T	NP_001190180.1:p.Gly243Val
NM_001203252.1:c.815G>T	NP_001190181.1:p.Gly272Val
NM_005910.5:c.815G>T	NP_005901.2:p.Gly272Val
NM_016834.4:c.641G>T	NP_058518.1:p.Gly214Val
NM_016835.4:c.1766G>T	NP_058519.3:p.Gly589Val
NM_016841.4:c.641G>T	NP_058525.1:p.Gly214Val
XM_005257362.3:c.2078G>T	XP_005257419.1:p.Gly693Val
XM_005257364.3:c.1991G>T	XP_005257421.1:p.Gly664Val
XM_005257365.3:c.2078G>T	XP_005257422.1:p.Gly693Val
XM_005257366.2:c.1904G>T	XP_005257423.1:p.Gly635Val
XM_005257367.3:c.1880G>T	XP_005257424.1:p.Gly627Val
XM_005257368.3:c.1880G>T	XP_005257425.1:p.Gly627Val
XM_005257369.3:c.1013G>T	XP_005257426.1:p.Gly338Val
XM_005257370.3:c.926G>T	XP_005257427.1:p.Gly309Val
XM_005257371.3:c.839G>T	XP_005257428.1:p.Gly280Val
XM_005257362.4:c.2078G>T	XP_005257419.1:p.Gly693Val
XM_005257364.4:c.1991G>T	XP_005257421.1:p.Gly664Val
XM_005257365.4:c.2078G>T	XP_005257422.1:p.Gly693Val
XM_005257366.3:c.1904G>T	XP_005257423.1:p.Gly635Val
XM_005257367.4:c.1880G>T	XP_005257424.1:p.Gly627Val
XM_005257368.4:c.1880G>T	XP_005257425.1:p.Gly627Val
XM_005257369.4:c.1013G>T	XP_005257426.1:p.Gly338Val
XM_005257370.4:c.926G>T	XP_005257427.1:p.Gly309Val
XM_005257371.4:c.839G>T	XP_005257428.1:p.Gly280Val
NM_001203251.2:c.728G>T	NP_001190180.1:p.Gly243Val
NM_001377265.1:c.1991G>T MANE Select	NP_001364194.1:p.Gly664Val
NM_001377266.1:c.1793G>T	NP_001364195.1:p.Gly598Val
NM_001377267.1:c.728G>T	NP_001364196.1:p.Gly243Val
NM_001377268.1:c.641G>T	NP_001364197.1:p.Gly214Val
NM_016834.5:c.641G>T	NP_058518.1:p.Gly214Val
NM_016841.5:c.641G>T	NP_058525.1:p.Gly214Val
NR_165166.1:n.739G>T
NM_001123066.4:c.1820G>T	NP_001116538.2:p.Gly607Val
NM_001123067.4:c.728G>T	NP_001116539.1:p.Gly243Val
NM_001203252.2:c.815G>T	NP_001190181.1:p.Gly272Val
NM_005910.6:c.815G>T	NP_005901.2:p.Gly272Val
NM_016835.5:c.1766G>T	NP_058519.3:p.Gly589Val