Canonical Allele Identifier: CA225434

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14257
• ClinVar RCV Id: RCV000015326 ; RCV000084525
• dbSNP Id: rs63750912
• MyVariant Identifiers: chr17:g.44087741T>C (hg19) ; chr17:g.46010375T>C (hg38)
• PubMed: PMID:8926492 ; PMID:11117553

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46010375T>C , CM000679.2:g.46010375T>C	GRCh38
NC_000017.10:g.44087741T>C , CM000679.1:g.44087741T>C	GRCh37
NC_000017.9:g.41443578T>C	NCBI36
NG_007398.1:g.120955T>C
NG_007398.2:g.120913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.801T>C	ENSP00000413056.2:p.Asn267=
ENST00000703922.1:c.801T>C	ENSP00000515557.1:p.Asn267=
ENST00000703923.1:c.714T>C	ENSP00000515558.1:p.Asn238=
ENST00000703924.1:c.801T>C	ENSP00000515559.1:p.Asn267=
ENST00000703978.1:c.888T>C	ENSP00000515600.1:p.Asn296=
ENST00000703979.1:n.687-3868T>C
ENST00000703980.1:n.114T>C
ENST00000703981.1:n.57T>C
ENST00000262410.10:c.2064T>C MANE Select	ENSP00000262410.6:p.Asn688=
ENST00000344290.10:c.1801-3868T>C	ENSP00000340820.6:n.1801-3868T>C
ENST00000351559.10:c.888T>C	ENSP00000303214.7:p.Asn296=
ENST00000535772.6:c.736-3868T>C	ENSP00000443028.2:n.736-3868T>C
ENST00000680542.1:c.801T>C	ENSP00000505258.1:p.Asn267=
ENST00000680674.1:c.714T>C	ENSP00000505478.1:p.Asn238=
ENST00000262410.9:c.1839T>C	ENSP00000262410.5:p.Asn613=
ENST00000334239.12:c.649-3868T>C	ENSP00000334886.8:n.649-3868T>C
ENST00000340799.9:c.801T>C	ENSP00000340438.5:p.Asn267=
ENST00000344290.9:c.1893T>C	ENSP00000340820.5:p.Asn631=
ENST00000351559.9:c.888T>C	ENSP00000303214.7:p.Asn296=
ENST00000415613.6:c.1893T>C	ENSP00000410838.2:p.Asn631=
ENST00000420682.6:c.801T>C	ENSP00000413056.2:p.Asn267=
ENST00000431008.7:c.823-3868T>C	ENSP00000389250.3:n.823-3868T>C
ENST00000446361.7:c.714T>C	ENSP00000408975.3:p.Asn238=
ENST00000535772.5:c.823-3868T>C	ENSP00000443028.1:n.823-3868T>C
ENST00000570299.5:n.777-8243T>C
ENST00000571987.5:c.1839T>C	ENSP00000458742.1:p.Asn613=
ENST00000574436.5:c.888T>C	ENSP00000460965.1:p.Asn296=
ENST00000576518.1:n.6108-3868T>C
NM_001123066.3:c.1893T>C	NP_001116538.2:p.Asn631=
NM_001123067.3:c.801T>C	NP_001116539.1:p.Asn267=
NM_001203251.1:c.736-3868T>C	NP_001190180.1:n.736-3868T>C
NM_001203252.1:c.823-3868T>C	NP_001190181.1:n.823-3868T>C
NM_005910.5:c.888T>C	NP_005901.2:p.Asn296=
NM_016834.4:c.714T>C	NP_058518.1:p.Asn238=
NM_016835.4:c.1839T>C	NP_058519.3:p.Asn613=
NM_016841.4:c.649-3868T>C	NP_058525.1:n.649-3868T>C
XM_005257362.3:c.2151T>C	XP_005257419.1:p.Asn717=
XM_005257364.3:c.2064T>C	XP_005257421.1:p.Asn688=
XM_005257365.3:c.2086-3868T>C	XP_005257422.1:n.2086-3868T>C
XM_005257366.2:c.1977T>C	XP_005257423.1:p.Asn659=
XM_005257367.3:c.1953T>C	XP_005257424.1:p.Asn651=
XM_005257368.3:c.1888-3868T>C	XP_005257425.1:n.1888-3868T>C
XM_005257369.3:c.1086T>C	XP_005257426.1:p.Asn362=
XM_005257370.3:c.999T>C	XP_005257427.1:p.Asn333=
XM_005257371.3:c.912T>C	XP_005257428.1:p.Asn304=
XM_005257362.4:c.2151T>C	XP_005257419.1:p.Asn717=
XM_005257364.4:c.2064T>C	XP_005257421.1:p.Asn688=
XM_005257365.4:c.2086-3868T>C	XP_005257422.1:n.2086-3868T>C
XM_005257366.3:c.1977T>C	XP_005257423.1:p.Asn659=
XM_005257367.4:c.1953T>C	XP_005257424.1:p.Asn651=
XM_005257368.4:c.1888-3868T>C	XP_005257425.1:n.1888-3868T>C
XM_005257369.4:c.1086T>C	XP_005257426.1:p.Asn362=
XM_005257370.4:c.999T>C	XP_005257427.1:p.Asn333=
XM_005257371.4:c.912T>C	XP_005257428.1:p.Asn304=
NM_001203251.2:c.736-3868T>C	NP_001190180.1:n.736-3868T>C
NM_001377265.1:c.2064T>C MANE Select	NP_001364194.1:p.Asn688=
NM_001377266.1:c.1801-3868T>C	NP_001364195.1:n.1801-3868T>C
NM_001377267.1:c.736-3868T>C	NP_001364196.1:n.736-3868T>C
NM_001377268.1:c.649-3868T>C	NP_001364197.1:n.649-3868T>C
NM_016834.5:c.714T>C	NP_058518.1:p.Asn238=
NM_016841.5:c.649-3868T>C	NP_058525.1:n.649-3868T>C
NR_165166.1:n.747-3868T>C
NM_001123066.4:c.1893T>C	NP_001116538.2:p.Asn631=
NM_001123067.4:c.801T>C	NP_001116539.1:p.Asn267=
NM_001203252.2:c.823-3868T>C	NP_001190181.1:n.823-3868T>C
NM_005910.6:c.888T>C	NP_005901.2:p.Asn296=
NM_016835.5:c.1839T>C	NP_058519.3:p.Asn613=