Canonical Allele Identifier: CA8618050

Gene: MAPT

Linked Data

• ClinVar Variation Id: 1126880
• ClinVar RCV Id: RCV001459077 ; RCV002495658
• dbSNP Id: rs115142761
• ExAC: 17:44073913 G / A
• gnomAD v2: 17-44073913-G-A
• gnomAD v3: 17-45996547-G-A
• gnomAD v4: 17-45996547-G-A
• COSMIC: COSM4067135 ; COSM4067136
• MyVariant Identifiers: chr17:g.44073913G>A (hg19) ; chr17:g.45996547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45996547G>A , CM000679.2:g.45996547G>A	GRCh38
NC_000017.10:g.44073913G>A , CM000679.1:g.44073913G>A	GRCh37
NC_000017.9:g.41429750G>A	NCBI36
NG_007398.1:g.107127G>A
NG_007398.2:g.107085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.618G>A	ENSP00000413056.2:p.Ser206=
ENST00000703922.1:c.618G>A	ENSP00000515557.1:p.Ser206=
ENST00000703923.1:c.531G>A	ENSP00000515558.1:p.Ser177=
ENST00000703924.1:c.618G>A	ENSP00000515559.1:p.Ser206=
ENST00000703978.1:c.705G>A	ENSP00000515600.1:p.Ser235=
ENST00000703979.1:n.569G>A
ENST00000262410.10:c.1881G>A MANE Select	ENSP00000262410.6:p.Ser627=
ENST00000344290.10:c.1683G>A	ENSP00000340820.6:p.Ser561=
ENST00000351559.10:c.705G>A	ENSP00000303214.7:p.Ser235=
ENST00000535772.6:c.618G>A	ENSP00000443028.2:p.Ser206=
ENST00000680542.1:c.618G>A	ENSP00000505258.1:p.Ser206=
ENST00000680674.1:c.531G>A	ENSP00000505478.1:p.Ser177=
ENST00000262410.9:c.1656G>A	ENSP00000262410.5:p.Ser552=
ENST00000334239.12:c.531G>A	ENSP00000334886.8:p.Ser177=
ENST00000340799.9:c.618G>A	ENSP00000340438.5:p.Ser206=
ENST00000344290.9:c.1710G>A	ENSP00000340820.5:p.Ser570=
ENST00000351559.9:c.705G>A	ENSP00000303214.7:p.Ser235=
ENST00000415613.6:c.1710G>A	ENSP00000410838.2:p.Ser570=
ENST00000420682.6:c.618G>A	ENSP00000413056.2:p.Ser206=
ENST00000431008.7:c.705G>A	ENSP00000389250.3:p.Ser235=
ENST00000446361.7:c.531G>A	ENSP00000408975.3:p.Ser177=
ENST00000535772.5:c.705G>A	ENSP00000443028.1:p.Ser235=
ENST00000570299.5:n.659G>A
ENST00000571987.5:c.1656G>A	ENSP00000458742.1:p.Ser552=
ENST00000574436.5:c.705G>A	ENSP00000460965.1:p.Ser235=
ENST00000576518.1:n.5990G>A
NM_001123066.3:c.1710G>A	NP_001116538.2:p.Ser570=
NM_001123067.3:c.618G>A	NP_001116539.1:p.Ser206=
NM_001203251.1:c.618G>A	NP_001190180.1:p.Ser206=
NM_001203252.1:c.705G>A	NP_001190181.1:p.Ser235=
NM_005910.5:c.705G>A	NP_005901.2:p.Ser235=
NM_016834.4:c.531G>A	NP_058518.1:p.Ser177=
NM_016835.4:c.1656G>A	NP_058519.3:p.Ser552=
NM_016841.4:c.531G>A	NP_058525.1:p.Ser177=
XM_005257362.3:c.1968G>A	XP_005257419.1:p.Ser656=
XM_005257364.3:c.1881G>A	XP_005257421.1:p.Ser627=
XM_005257365.3:c.1968G>A	XP_005257422.1:p.Ser656=
XM_005257366.2:c.1794G>A	XP_005257423.1:p.Ser598=
XM_005257367.3:c.1770G>A	XP_005257424.1:p.Ser590=
XM_005257368.3:c.1770G>A	XP_005257425.1:p.Ser590=
XM_005257369.3:c.903G>A	XP_005257426.1:p.Ser301=
XM_005257370.3:c.816G>A	XP_005257427.1:p.Ser272=
XM_005257371.3:c.729G>A	XP_005257428.1:p.Ser243=
XM_005257362.4:c.1968G>A	XP_005257419.1:p.Ser656=
XM_005257364.4:c.1881G>A	XP_005257421.1:p.Ser627=
XM_005257365.4:c.1968G>A	XP_005257422.1:p.Ser656=
XM_005257366.3:c.1794G>A	XP_005257423.1:p.Ser598=
XM_005257367.4:c.1770G>A	XP_005257424.1:p.Ser590=
XM_005257368.4:c.1770G>A	XP_005257425.1:p.Ser590=
XM_005257369.4:c.903G>A	XP_005257426.1:p.Ser301=
XM_005257370.4:c.816G>A	XP_005257427.1:p.Ser272=
XM_005257371.4:c.729G>A	XP_005257428.1:p.Ser243=
NM_001203251.2:c.618G>A	NP_001190180.1:p.Ser206=
NM_001377265.1:c.1881G>A MANE Select	NP_001364194.1:p.Ser627=
NM_001377266.1:c.1683G>A	NP_001364195.1:p.Ser561=
NM_001377267.1:c.618G>A	NP_001364196.1:p.Ser206=
NM_001377268.1:c.531G>A	NP_001364197.1:p.Ser177=
NM_016834.5:c.531G>A	NP_058518.1:p.Ser177=
NM_016841.5:c.531G>A	NP_058525.1:p.Ser177=
NR_165166.1:n.629G>A
NM_001123066.4:c.1710G>A	NP_001116538.2:p.Ser570=
NM_001123067.4:c.618G>A	NP_001116539.1:p.Ser206=
NM_001203252.2:c.705G>A	NP_001190181.1:p.Ser235=
NM_005910.6:c.705G>A	NP_005901.2:p.Ser235=
NM_016835.5:c.1656G>A	NP_058519.3:p.Ser552=