Canonical Allele Identifier: CA225409

Gene: MAPT

Linked Data

• ClinVar Variation Id: 98208
• ClinVar RCV Id: RCV000084513 ; RCV000325065 ; RCV000805364 ; RCV003993800 ; RCV003935077
• dbSNP Id: rs63750096
• ExAC: 17:44073923 G / A
• gnomAD v2: 17-44073923-G-A
• gnomAD v3: 17-45996557-G-A
• gnomAD v4: 17-45996557-G-A
• MyVariant Identifiers: chr17:g.44073923G>A (hg19) ; chr17:g.45996557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996557G>A , CM000679.2:g.45996557G>A	GRCh38
NC_000017.10:g.44073923G>A , CM000679.1:g.44073923G>A	GRCh37
NC_000017.9:g.41429760G>A	NCBI36
NG_007398.1:g.107137G>A
NG_007398.2:g.107095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.628G>A	ENSP00000413056.2:p.Ala210Thr
ENST00000703922.1:c.628G>A	ENSP00000515557.1:p.Ala210Thr
ENST00000703923.1:c.541G>A	ENSP00000515558.1:p.Ala181Thr
ENST00000703924.1:c.628G>A	ENSP00000515559.1:p.Ala210Thr
ENST00000703978.1:c.715G>A	ENSP00000515600.1:p.Ala239Thr
ENST00000703979.1:n.579G>A
ENST00000262410.10:c.1891G>A MANE Select	ENSP00000262410.6:p.Ala631Thr
ENST00000344290.10:c.1693G>A	ENSP00000340820.6:p.Ala565Thr
ENST00000351559.10:c.715G>A	ENSP00000303214.7:p.Ala239Thr
ENST00000535772.6:c.628G>A	ENSP00000443028.2:p.Ala210Thr
ENST00000680542.1:c.628G>A	ENSP00000505258.1:p.Ala210Thr
ENST00000680674.1:c.541G>A	ENSP00000505478.1:p.Ala181Thr
ENST00000262410.9:c.1666G>A	ENSP00000262410.5:p.Ala556Thr
ENST00000334239.12:c.541G>A	ENSP00000334886.8:p.Ala181Thr
ENST00000340799.9:c.628G>A	ENSP00000340438.5:p.Ala210Thr
ENST00000344290.9:c.1720G>A	ENSP00000340820.5:p.Ala574Thr
ENST00000351559.9:c.715G>A	ENSP00000303214.7:p.Ala239Thr
ENST00000415613.6:c.1720G>A	ENSP00000410838.2:p.Ala574Thr
ENST00000420682.6:c.628G>A	ENSP00000413056.2:p.Ala210Thr
ENST00000431008.7:c.715G>A	ENSP00000389250.3:p.Ala239Thr
ENST00000446361.7:c.541G>A	ENSP00000408975.3:p.Ala181Thr
ENST00000535772.5:c.715G>A	ENSP00000443028.1:p.Ala239Thr
ENST00000570299.5:n.669G>A
ENST00000571987.5:c.1666G>A	ENSP00000458742.1:p.Ala556Thr
ENST00000574436.5:c.715G>A	ENSP00000460965.1:p.Ala239Thr
ENST00000576518.1:n.6000G>A
NM_001123066.3:c.1720G>A	NP_001116538.2:p.Ala574Thr
NM_001123067.3:c.628G>A	NP_001116539.1:p.Ala210Thr
NM_001203251.1:c.628G>A	NP_001190180.1:p.Ala210Thr
NM_001203252.1:c.715G>A	NP_001190181.1:p.Ala239Thr
NM_005910.5:c.715G>A	NP_005901.2:p.Ala239Thr
NM_016834.4:c.541G>A	NP_058518.1:p.Ala181Thr
NM_016835.4:c.1666G>A	NP_058519.3:p.Ala556Thr
NM_016841.4:c.541G>A	NP_058525.1:p.Ala181Thr
XM_005257362.3:c.1978G>A	XP_005257419.1:p.Ala660Thr
XM_005257364.3:c.1891G>A	XP_005257421.1:p.Ala631Thr
XM_005257365.3:c.1978G>A	XP_005257422.1:p.Ala660Thr
XM_005257366.2:c.1804G>A	XP_005257423.1:p.Ala602Thr
XM_005257367.3:c.1780G>A	XP_005257424.1:p.Ala594Thr
XM_005257368.3:c.1780G>A	XP_005257425.1:p.Ala594Thr
XM_005257369.3:c.913G>A	XP_005257426.1:p.Ala305Thr
XM_005257370.3:c.826G>A	XP_005257427.1:p.Ala276Thr
XM_005257371.3:c.739G>A	XP_005257428.1:p.Ala247Thr
XM_005257362.4:c.1978G>A	XP_005257419.1:p.Ala660Thr
XM_005257364.4:c.1891G>A	XP_005257421.1:p.Ala631Thr
XM_005257365.4:c.1978G>A	XP_005257422.1:p.Ala660Thr
XM_005257366.3:c.1804G>A	XP_005257423.1:p.Ala602Thr
XM_005257367.4:c.1780G>A	XP_005257424.1:p.Ala594Thr
XM_005257368.4:c.1780G>A	XP_005257425.1:p.Ala594Thr
XM_005257369.4:c.913G>A	XP_005257426.1:p.Ala305Thr
XM_005257370.4:c.826G>A	XP_005257427.1:p.Ala276Thr
XM_005257371.4:c.739G>A	XP_005257428.1:p.Ala247Thr
NM_001203251.2:c.628G>A	NP_001190180.1:p.Ala210Thr
NM_001377265.1:c.1891G>A MANE Select	NP_001364194.1:p.Ala631Thr
NM_001377266.1:c.1693G>A	NP_001364195.1:p.Ala565Thr
NM_001377267.1:c.628G>A	NP_001364196.1:p.Ala210Thr
NM_001377268.1:c.541G>A	NP_001364197.1:p.Ala181Thr
NM_016834.5:c.541G>A	NP_058518.1:p.Ala181Thr
NM_016841.5:c.541G>A	NP_058525.1:p.Ala181Thr
NR_165166.1:n.639G>A
NM_001123066.4:c.1720G>A	NP_001116538.2:p.Ala574Thr
NM_001123067.4:c.628G>A	NP_001116539.1:p.Ala210Thr
NM_001203252.2:c.715G>A	NP_001190181.1:p.Ala239Thr
NM_005910.6:c.715G>A	NP_005901.2:p.Ala239Thr
NM_016835.5:c.1666G>A	NP_058519.3:p.Ala556Thr