Canonical Allele Identifier: CA257191

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14261
• ClinVar RCV Id: RCV000015330 ; RCV000266864
• dbSNP Id: rs63750959
• ExAC: 17:44039717 G / A
• gnomAD v2: 17-44039717-G-A
• gnomAD v3: 17-45962351-G-A
• gnomAD v4: 17-45962351-G-A
• MyVariant Identifiers: chr17:g.44039717G>A (hg19) ; chr17:g.45962351G>A (hg38)
• PubMed: PMID:11921059 ; PMID:22312439

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45962351G>A , CM000679.2:g.45962351G>A	GRCh38
NC_000017.10:g.44039717G>A , CM000679.1:g.44039717G>A	GRCh37
NC_000017.9:g.41395553G>A	NCBI36
NG_007398.1:g.72930G>A
NG_007398.2:g.72889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.14G>A	ENSP00000413056.2:p.Arg5His
ENST00000703922.1:c.14G>A	ENSP00000515557.1:p.Arg5His
ENST00000703923.1:c.14G>A	ENSP00000515558.1:p.Arg5His
ENST00000703924.1:c.14G>A	ENSP00000515559.1:p.Arg5His
ENST00000703974.1:n.174G>A
ENST00000703975.1:n.145G>A
ENST00000703976.1:n.126G>A
ENST00000703977.1:n.55G>A
ENST00000703978.1:c.14G>A	ENSP00000515600.1:p.Arg5His
ENST00000703979.1:n.31G>A
ENST00000262410.10:c.14G>A MANE Select	ENSP00000262410.6:p.Arg5His
ENST00000344290.10:c.14G>A	ENSP00000340820.6:p.Arg5His
ENST00000351559.10:c.14G>A	ENSP00000303214.7:p.Arg5His
ENST00000535772.6:c.14G>A	ENSP00000443028.2:p.Arg5His
ENST00000680542.1:c.14G>A	ENSP00000505258.1:p.Arg5His
ENST00000680674.1:c.14G>A	ENSP00000505478.1:p.Arg5His
ENST00000262410.9:c.14G>A	ENSP00000262410.5:p.Arg5His
ENST00000334239.12:c.14G>A	ENSP00000334886.8:p.Arg5His
ENST00000340799.9:c.14G>A	ENSP00000340438.5:p.Arg5His
ENST00000344290.9:c.14G>A	ENSP00000340820.5:p.Arg5His
ENST00000351559.9:c.14G>A	ENSP00000303214.7:p.Arg5His
ENST00000415613.6:c.14G>A	ENSP00000410838.2:p.Arg5His
ENST00000420682.6:c.14G>A	ENSP00000413056.2:p.Arg5His
ENST00000431008.7:c.14G>A	ENSP00000389250.3:p.Arg5His
ENST00000446361.7:c.14G>A	ENSP00000408975.3:p.Arg5His
ENST00000535772.5:c.14G>A	ENSP00000443028.1:p.Arg5His
ENST00000570299.5:n.142G>A
ENST00000571311.5:c.14G>A	ENSP00000460048.1:p.Arg5His
ENST00000571987.5:c.14G>A	ENSP00000458742.1:p.Arg5His
ENST00000574436.5:c.14G>A	ENSP00000460965.1:p.Arg5His
NM_001123066.3:c.14G>A	NP_001116538.2:p.Arg5His
NM_001123067.3:c.14G>A	NP_001116539.1:p.Arg5His
NM_001203251.1:c.14G>A	NP_001190180.1:p.Arg5His
NM_001203252.1:c.14G>A	NP_001190181.1:p.Arg5His
NM_005910.5:c.14G>A	NP_005901.2:p.Arg5His
NM_016834.4:c.14G>A	NP_058518.1:p.Arg5His
NM_016835.4:c.14G>A	NP_058519.3:p.Arg5His
NM_016841.4:c.14G>A	NP_058525.1:p.Arg5His
XM_005257362.3:c.14G>A	XP_005257419.1:p.Arg5His
XM_005257364.3:c.14G>A	XP_005257421.1:p.Arg5His
XM_005257365.3:c.14G>A	XP_005257422.1:p.Arg5His
XM_005257366.2:c.14G>A	XP_005257423.1:p.Arg5His
XM_005257367.3:c.14G>A	XP_005257424.1:p.Arg5His
XM_005257368.3:c.14G>A	XP_005257425.1:p.Arg5His
XM_005257369.3:c.14G>A	XP_005257426.1:p.Arg5His
XM_005257370.3:c.14G>A	XP_005257427.1:p.Arg5His
XM_005257371.3:c.14G>A	XP_005257428.1:p.Arg5His
XM_005257362.4:c.14G>A	XP_005257419.1:p.Arg5His
XM_005257364.4:c.14G>A	XP_005257421.1:p.Arg5His
XM_005257365.4:c.14G>A	XP_005257422.1:p.Arg5His
XM_005257366.3:c.14G>A	XP_005257423.1:p.Arg5His
XM_005257367.4:c.14G>A	XP_005257424.1:p.Arg5His
XM_005257368.4:c.14G>A	XP_005257425.1:p.Arg5His
XM_005257369.4:c.14G>A	XP_005257426.1:p.Arg5His
XM_005257370.4:c.14G>A	XP_005257427.1:p.Arg5His
XM_005257371.4:c.14G>A	XP_005257428.1:p.Arg5His
NM_001203251.2:c.14G>A	NP_001190180.1:p.Arg5His
NM_001377265.1:c.14G>A MANE Select	NP_001364194.1:p.Arg5His
NM_001377266.1:c.14G>A	NP_001364195.1:p.Arg5His
NM_001377267.1:c.14G>A	NP_001364196.1:p.Arg5His
NM_001377268.1:c.14G>A	NP_001364197.1:p.Arg5His
NM_016834.5:c.14G>A	NP_058518.1:p.Arg5His
NM_016841.5:c.14G>A	NP_058525.1:p.Arg5His
NR_165166.1:n.164G>A
NM_001123066.4:c.14G>A	NP_001116538.2:p.Arg5His
NM_001123067.4:c.14G>A	NP_001116539.1:p.Arg5His
NM_001203252.2:c.14G>A	NP_001190181.1:p.Arg5His
NM_005910.6:c.14G>A	NP_005901.2:p.Arg5His
NM_016835.5:c.14G>A	NP_058519.3:p.Arg5His