Canonical Allele Identifier: CA399983428

Gene: MAPT

Linked Data

• ClinVar Variation Id: 2772507
• ClinVar RCV Id: RCV003516088
• MyVariant Identifiers: chr17:g.44091614A>C (hg19) ; chr17:g.46014248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46014248A>C , CM000679.2:g.46014248A>C	GRCh38
NC_000017.10:g.44091614A>C , CM000679.1:g.44091614A>C	GRCh37
NC_000017.9:g.41447451A>C	NCBI36
NG_007398.1:g.124828A>C
NG_007398.2:g.124786A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.834A>C	ENSP00000413056.2:p.Gln278His
ENST00000703922.1:c.834A>C	ENSP00000515557.1:p.Gln278His
ENST00000703923.1:c.747A>C	ENSP00000515558.1:p.Gln249His
ENST00000703924.1:c.834A>C	ENSP00000515559.1:p.Gln278His
ENST00000703978.1:c.921A>C	ENSP00000515600.1:p.Gln307His
ENST00000703979.1:n.692A>C
ENST00000703980.1:n.147A>C
ENST00000703981.1:n.90A>C
ENST00000262410.10:c.2097A>C MANE Select	ENSP00000262410.6:p.Gln699His
ENST00000344290.10:c.1806A>C	ENSP00000340820.6:p.Gln602His
ENST00000351559.10:c.921A>C	ENSP00000303214.7:p.Gln307His
ENST00000535772.6:c.741A>C	ENSP00000443028.2:p.Gln247His
ENST00000680542.1:c.834A>C	ENSP00000505258.1:p.Gln278His
ENST00000680674.1:c.747A>C	ENSP00000505478.1:p.Gln249His
ENST00000262410.9:c.1872A>C	ENSP00000262410.5:p.Gln624His
ENST00000334239.12:c.654A>C	ENSP00000334886.8:p.Gln218His
ENST00000340799.9:c.834A>C	ENSP00000340438.5:p.Gln278His
ENST00000344290.9:c.1926A>C	ENSP00000340820.5:p.Gln642His
ENST00000351559.9:c.921A>C	ENSP00000303214.7:p.Gln307His
ENST00000415613.6:c.1926A>C	ENSP00000410838.2:p.Gln642His
ENST00000420682.6:c.834A>C	ENSP00000413056.2:p.Gln278His
ENST00000431008.7:c.828A>C	ENSP00000389250.3:p.Gln276His
ENST00000446361.7:c.747A>C	ENSP00000408975.3:p.Gln249His
ENST00000535772.5:c.828A>C	ENSP00000443028.1:p.Gln276His
ENST00000570299.5:n.777-4370A>C
ENST00000571987.5:c.1872A>C	ENSP00000458742.1:p.Gln624His
ENST00000574436.5:c.921A>C	ENSP00000460965.1:p.Gln307His
ENST00000576518.1:n.6113A>C
NM_001123066.3:c.1926A>C	NP_001116538.2:p.Gln642His
NM_001123067.3:c.834A>C	NP_001116539.1:p.Gln278His
NM_001203251.1:c.741A>C	NP_001190180.1:p.Gln247His
NM_001203252.1:c.828A>C	NP_001190181.1:p.Gln276His
NM_005910.5:c.921A>C	NP_005901.2:p.Gln307His
NM_016834.4:c.747A>C	NP_058518.1:p.Gln249His
NM_016835.4:c.1872A>C	NP_058519.3:p.Gln624His
NM_016841.4:c.654A>C	NP_058525.1:p.Gln218His
XM_005257362.3:c.2184A>C	XP_005257419.1:p.Gln728His
XM_005257364.3:c.2097A>C	XP_005257421.1:p.Gln699His
XM_005257365.3:c.2091A>C	XP_005257422.1:p.Gln697His
XM_005257366.2:c.2010A>C	XP_005257423.1:p.Gln670His
XM_005257367.3:c.1986A>C	XP_005257424.1:p.Gln662His
XM_005257368.3:c.1893A>C	XP_005257425.1:p.Gln631His
XM_005257369.3:c.1119A>C	XP_005257426.1:p.Gln373His
XM_005257370.3:c.1032A>C	XP_005257427.1:p.Gln344His
XM_005257371.3:c.945A>C	XP_005257428.1:p.Gln315His
XM_005257362.4:c.2184A>C	XP_005257419.1:p.Gln728His
XM_005257364.4:c.2097A>C	XP_005257421.1:p.Gln699His
XM_005257365.4:c.2091A>C	XP_005257422.1:p.Gln697His
XM_005257366.3:c.2010A>C	XP_005257423.1:p.Gln670His
XM_005257367.4:c.1986A>C	XP_005257424.1:p.Gln662His
XM_005257368.4:c.1893A>C	XP_005257425.1:p.Gln631His
XM_005257369.4:c.1119A>C	XP_005257426.1:p.Gln373His
XM_005257370.4:c.1032A>C	XP_005257427.1:p.Gln344His
XM_005257371.4:c.945A>C	XP_005257428.1:p.Gln315His
NM_001203251.2:c.741A>C	NP_001190180.1:p.Gln247His
NM_001377265.1:c.2097A>C MANE Select	NP_001364194.1:p.Gln699His
NM_001377266.1:c.1806A>C	NP_001364195.1:p.Gln602His
NM_001377267.1:c.741A>C	NP_001364196.1:p.Gln247His
NM_001377268.1:c.654A>C	NP_001364197.1:p.Gln218His
NM_016834.5:c.747A>C	NP_058518.1:p.Gln249His
NM_016841.5:c.654A>C	NP_058525.1:p.Gln218His
NR_165166.1:n.752A>C
NM_001123066.4:c.1926A>C	NP_001116538.2:p.Gln642His
NM_001123067.4:c.834A>C	NP_001116539.1:p.Gln278His
NM_001203252.2:c.828A>C	NP_001190181.1:p.Gln276His
NM_005910.6:c.921A>C	NP_005901.2:p.Gln307His
NM_016835.5:c.1872A>C	NP_058519.3:p.Gln624His