Canonical Allele Identifier: CA225439

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14256
• ClinVar RCV Id: RCV000015325 ; RCV000084526
• dbSNP Id: rs63751438
• gnomAD v4: 17-46010388-C-T
• MyVariant Identifiers: chr17:g.44087754C>T (hg19) ; chr17:g.46010388C>T (hg38)
• PubMed: PMID:10374757 ; PMID:10553987 ; PMID:11071507 ; PMID:12722177 ; PMID:12796837 ; PMID:16240366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46010388C>T , CM000679.2:g.46010388C>T	GRCh38
NC_000017.10:g.44087754C>T , CM000679.1:g.44087754C>T	GRCh37
NC_000017.9:g.41443591C>T	NCBI36
NG_007398.1:g.120968C>T
NG_007398.2:g.120926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.814C>T	ENSP00000413056.2:p.Pro272Ser
ENST00000703922.1:c.814C>T	ENSP00000515557.1:p.Pro272Ser
ENST00000703923.1:c.727C>T	ENSP00000515558.1:p.Pro243Ser
ENST00000703924.1:c.814C>T	ENSP00000515559.1:p.Pro272Ser
ENST00000703978.1:c.901C>T	ENSP00000515600.1:p.Pro301Ser
ENST00000703979.1:n.687-3855C>T
ENST00000703980.1:n.127C>T
ENST00000703981.1:n.70C>T
ENST00000262410.10:c.2077C>T MANE Select	ENSP00000262410.6:p.Pro693Ser
ENST00000344290.10:c.1801-3855C>T	ENSP00000340820.6:n.1801-3855C>T
ENST00000351559.10:c.901C>T	ENSP00000303214.7:p.Pro301Ser
ENST00000535772.6:c.736-3855C>T	ENSP00000443028.2:n.736-3855C>T
ENST00000680542.1:c.814C>T	ENSP00000505258.1:p.Pro272Ser
ENST00000680674.1:c.727C>T	ENSP00000505478.1:p.Pro243Ser
ENST00000262410.9:c.1852C>T	ENSP00000262410.5:p.Pro618Ser
ENST00000334239.12:c.649-3855C>T	ENSP00000334886.8:n.649-3855C>T
ENST00000340799.9:c.814C>T	ENSP00000340438.5:p.Pro272Ser
ENST00000344290.9:c.1906C>T	ENSP00000340820.5:p.Pro636Ser
ENST00000351559.9:c.901C>T	ENSP00000303214.7:p.Pro301Ser
ENST00000415613.6:c.1906C>T	ENSP00000410838.2:p.Pro636Ser
ENST00000420682.6:c.814C>T	ENSP00000413056.2:p.Pro272Ser
ENST00000431008.7:c.823-3855C>T	ENSP00000389250.3:n.823-3855C>T
ENST00000446361.7:c.727C>T	ENSP00000408975.3:p.Pro243Ser
ENST00000535772.5:c.823-3855C>T	ENSP00000443028.1:n.823-3855C>T
ENST00000570299.5:n.777-8230C>T
ENST00000571987.5:c.1852C>T	ENSP00000458742.1:p.Pro618Ser
ENST00000574436.5:c.901C>T	ENSP00000460965.1:p.Pro301Ser
ENST00000576518.1:n.6108-3855C>T
NM_001123066.3:c.1906C>T	NP_001116538.2:p.Pro636Ser
NM_001123067.3:c.814C>T	NP_001116539.1:p.Pro272Ser
NM_001203251.1:c.736-3855C>T	NP_001190180.1:n.736-3855C>T
NM_001203252.1:c.823-3855C>T	NP_001190181.1:n.823-3855C>T
NM_005910.5:c.901C>T	NP_005901.2:p.Pro301Ser
NM_016834.4:c.727C>T	NP_058518.1:p.Pro243Ser
NM_016835.4:c.1852C>T	NP_058519.3:p.Pro618Ser
NM_016841.4:c.649-3855C>T	NP_058525.1:n.649-3855C>T
XM_005257362.3:c.2164C>T	XP_005257419.1:p.Pro722Ser
XM_005257364.3:c.2077C>T	XP_005257421.1:p.Pro693Ser
XM_005257365.3:c.2086-3855C>T	XP_005257422.1:n.2086-3855C>T
XM_005257366.2:c.1990C>T	XP_005257423.1:p.Pro664Ser
XM_005257367.3:c.1966C>T	XP_005257424.1:p.Pro656Ser
XM_005257368.3:c.1888-3855C>T	XP_005257425.1:n.1888-3855C>T
XM_005257369.3:c.1099C>T	XP_005257426.1:p.Pro367Ser
XM_005257370.3:c.1012C>T	XP_005257427.1:p.Pro338Ser
XM_005257371.3:c.925C>T	XP_005257428.1:p.Pro309Ser
XM_005257362.4:c.2164C>T	XP_005257419.1:p.Pro722Ser
XM_005257364.4:c.2077C>T	XP_005257421.1:p.Pro693Ser
XM_005257365.4:c.2086-3855C>T	XP_005257422.1:n.2086-3855C>T
XM_005257366.3:c.1990C>T	XP_005257423.1:p.Pro664Ser
XM_005257367.4:c.1966C>T	XP_005257424.1:p.Pro656Ser
XM_005257368.4:c.1888-3855C>T	XP_005257425.1:n.1888-3855C>T
XM_005257369.4:c.1099C>T	XP_005257426.1:p.Pro367Ser
XM_005257370.4:c.1012C>T	XP_005257427.1:p.Pro338Ser
XM_005257371.4:c.925C>T	XP_005257428.1:p.Pro309Ser
NM_001203251.2:c.736-3855C>T	NP_001190180.1:n.736-3855C>T
NM_001377265.1:c.2077C>T MANE Select	NP_001364194.1:p.Pro693Ser
NM_001377266.1:c.1801-3855C>T	NP_001364195.1:n.1801-3855C>T
NM_001377267.1:c.736-3855C>T	NP_001364196.1:n.736-3855C>T
NM_001377268.1:c.649-3855C>T	NP_001364197.1:n.649-3855C>T
NM_016834.5:c.727C>T	NP_058518.1:p.Pro243Ser
NM_016841.5:c.649-3855C>T	NP_058525.1:n.649-3855C>T
NR_165166.1:n.747-3855C>T
NM_001123066.4:c.1906C>T	NP_001116538.2:p.Pro636Ser
NM_001123067.4:c.814C>T	NP_001116539.1:p.Pro272Ser
NM_001203252.2:c.823-3855C>T	NP_001190181.1:n.823-3855C>T
NM_005910.6:c.901C>T	NP_005901.2:p.Pro301Ser
NM_016835.5:c.1852C>T	NP_058519.3:p.Pro618Ser