Canonical Allele Identifier: CA225483

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14252
• ClinVar RCV Id: RCV000015321 ; RCV000084548
• dbSNP Id: rs63750570
• MyVariant Identifiers: chr17:g.44095995G>A (hg19) ; chr17:g.46018629G>A (hg38)
• PubMed: PMID:9629852 ; PMID:11255441 ; PMID:11402146

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018629G>A , CM000679.2:g.46018629G>A	GRCh38
NC_000017.10:g.44095995G>A , CM000679.1:g.44095995G>A	GRCh37
NC_000017.9:g.41451842G>A	NCBI36
NG_007398.1:g.129219G>A
NG_007398.2:g.129167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.922G>A	ENSP00000413056.2:p.Val308Met
ENST00000703922.1:c.922G>A	ENSP00000515557.1:p.Val308Met
ENST00000703923.1:c.835G>A	ENSP00000515558.1:p.Val279Met
ENST00000703924.1:c.922G>A	ENSP00000515559.1:p.Val308Met
ENST00000703978.1:c.1009G>A	ENSP00000515600.1:p.Val337Met
ENST00000703979.1:n.780G>A
ENST00000703980.1:n.235G>A
ENST00000703981.1:n.193G>A
ENST00000703982.1:n.427G>A
ENST00000262410.10:c.2185G>A MANE Select	ENSP00000262410.6:p.Val729Met
ENST00000344290.10:c.1894G>A	ENSP00000340820.6:p.Val632Met
ENST00000351559.10:c.1009G>A	ENSP00000303214.7:p.Val337Met
ENST00000535772.6:c.829G>A	ENSP00000443028.2:p.Val277Met
ENST00000680542.1:c.922G>A	ENSP00000505258.1:p.Val308Met
ENST00000680674.1:c.958G>A	ENSP00000505478.1:p.Val320Met
ENST00000262410.9:c.1960G>A	ENSP00000262410.5:p.Val654Met
ENST00000334239.12:c.742G>A	ENSP00000334886.8:p.Val248Met
ENST00000340799.9:c.922G>A	ENSP00000340438.5:p.Val308Met
ENST00000344290.9:c.2014G>A	ENSP00000340820.5:p.Val672Met
ENST00000351559.9:c.1009G>A	ENSP00000303214.7:p.Val337Met
ENST00000415613.6:c.2014G>A	ENSP00000410838.2:p.Val672Met
ENST00000420682.6:c.922G>A	ENSP00000413056.2:p.Val308Met
ENST00000431008.7:c.916G>A	ENSP00000389250.3:p.Val306Met
ENST00000446361.7:c.835G>A	ENSP00000408975.3:p.Val279Met
ENST00000535772.5:c.916G>A	ENSP00000443028.1:p.Val306Met
ENST00000570299.5:n.788G>A
ENST00000571987.5:c.1960G>A	ENSP00000458742.1:p.Val654Met
ENST00000574436.5:c.1009G>A	ENSP00000460965.1:p.Val337Met
ENST00000576518.1:n.6201G>A
NM_001123066.3:c.2014G>A	NP_001116538.2:p.Val672Met
NM_001123067.3:c.922G>A	NP_001116539.1:p.Val308Met
NM_001203251.1:c.829G>A	NP_001190180.1:p.Val277Met
NM_001203252.1:c.916G>A	NP_001190181.1:p.Val306Met
NM_005910.5:c.1009G>A	NP_005901.2:p.Val337Met
NM_016834.4:c.835G>A	NP_058518.1:p.Val279Met
NM_016835.4:c.1960G>A	NP_058519.3:p.Val654Met
NM_016841.4:c.742G>A	NP_058525.1:p.Val248Met
XM_005257362.3:c.2272G>A	XP_005257419.1:p.Val758Met
XM_005257364.3:c.2185G>A	XP_005257421.1:p.Val729Met
XM_005257365.3:c.2179G>A	XP_005257422.1:p.Val727Met
XM_005257366.2:c.2098G>A	XP_005257423.1:p.Val700Met
XM_005257367.3:c.2074G>A	XP_005257424.1:p.Val692Met
XM_005257368.3:c.1981G>A	XP_005257425.1:p.Val661Met
XM_005257369.3:c.1207G>A	XP_005257426.1:p.Val403Met
XM_005257370.3:c.1120G>A	XP_005257427.1:p.Val374Met
XM_005257371.3:c.1033G>A	XP_005257428.1:p.Val345Met
XM_005257362.4:c.2272G>A	XP_005257419.1:p.Val758Met
XM_005257364.4:c.2185G>A	XP_005257421.1:p.Val729Met
XM_005257365.4:c.2179G>A	XP_005257422.1:p.Val727Met
XM_005257366.3:c.2098G>A	XP_005257423.1:p.Val700Met
XM_005257367.4:c.2074G>A	XP_005257424.1:p.Val692Met
XM_005257368.4:c.1981G>A	XP_005257425.1:p.Val661Met
XM_005257369.4:c.1207G>A	XP_005257426.1:p.Val403Met
XM_005257370.4:c.1120G>A	XP_005257427.1:p.Val374Met
XM_005257371.4:c.1033G>A	XP_005257428.1:p.Val345Met
NM_001203251.2:c.829G>A	NP_001190180.1:p.Val277Met
NM_001377265.1:c.2185G>A MANE Select	NP_001364194.1:p.Val729Met
NM_001377266.1:c.1894G>A	NP_001364195.1:p.Val632Met
NM_001377267.1:c.771+4351G>A	NP_001364196.1:n.771+4351G>A
NM_001377268.1:c.742G>A	NP_001364197.1:p.Val248Met
NM_016834.5:c.835G>A	NP_058518.1:p.Val279Met
NM_016841.5:c.742G>A	NP_058525.1:p.Val248Met
NR_165166.1:n.840G>A
NM_001123066.4:c.2014G>A	NP_001116538.2:p.Val672Met
NM_001123067.4:c.922G>A	NP_001116539.1:p.Val308Met
NM_001203252.2:c.916G>A	NP_001190181.1:p.Val306Met
NM_005910.6:c.1009G>A	NP_005901.2:p.Val337Met
NM_016835.5:c.1960G>A	NP_058519.3:p.Val654Met