Canonical Allele Identifier: CA225487

Gene: MAPT

Linked Data

• ClinVar Variation Id: 14267
• ClinVar RCV Id: RCV000084550
• dbSNP Id: rs63750425
• gnomAD v3: 17-46018675-C-T
• gnomAD v4: 17-46018675-C-T
• COSMIC: COSM4754030 ; COSM4754031
• MyVariant Identifiers: chr17:g.44096041C>T (hg19) ; chr17:g.46018675C>T (hg38)
• PubMed: PMID:14595660

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018675C>T , CM000679.2:g.46018675C>T	GRCh38
NC_000017.10:g.44096041C>T , CM000679.1:g.44096041C>T	GRCh37
NC_000017.9:g.41451888C>T	NCBI36
NG_007398.1:g.129265C>T
NG_007398.2:g.129213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.968C>T	ENSP00000413056.2:p.Ser323Leu
ENST00000703922.1:c.968C>T	ENSP00000515557.1:p.Ser323Leu
ENST00000703923.1:c.881C>T	ENSP00000515558.1:p.Ser294Leu
ENST00000703924.1:c.968C>T	ENSP00000515559.1:p.Ser323Leu
ENST00000703978.1:c.1055C>T	ENSP00000515600.1:p.Ser352Leu
ENST00000703979.1:n.826C>T
ENST00000703980.1:n.281C>T
ENST00000703981.1:n.239C>T
ENST00000703982.1:n.473C>T
ENST00000262410.10:c.2231C>T MANE Select	ENSP00000262410.6:p.Ser744Leu
ENST00000344290.10:c.1940C>T	ENSP00000340820.6:p.Ser647Leu
ENST00000351559.10:c.1055C>T	ENSP00000303214.7:p.Ser352Leu
ENST00000535772.6:c.875C>T	ENSP00000443028.2:p.Ser292Leu
ENST00000680542.1:c.968C>T	ENSP00000505258.1:p.Ser323Leu
ENST00000680674.1:c.1004C>T	ENSP00000505478.1:p.Ser335Leu
ENST00000262410.9:c.2006C>T	ENSP00000262410.5:p.Ser669Leu
ENST00000334239.12:c.788C>T	ENSP00000334886.8:p.Ser263Leu
ENST00000340799.9:c.968C>T	ENSP00000340438.5:p.Ser323Leu
ENST00000344290.9:c.2060C>T	ENSP00000340820.5:p.Ser687Leu
ENST00000351559.9:c.1055C>T	ENSP00000303214.7:p.Ser352Leu
ENST00000415613.6:c.2060C>T	ENSP00000410838.2:p.Ser687Leu
ENST00000420682.6:c.968C>T	ENSP00000413056.2:p.Ser323Leu
ENST00000431008.7:c.962C>T	ENSP00000389250.3:p.Ser321Leu
ENST00000446361.7:c.881C>T	ENSP00000408975.3:p.Ser294Leu
ENST00000535772.5:c.962C>T	ENSP00000443028.1:p.Ser321Leu
ENST00000570299.5:n.834C>T
ENST00000571987.5:c.2006C>T	ENSP00000458742.1:p.Ser669Leu
ENST00000574436.5:c.1055C>T	ENSP00000460965.1:p.Ser352Leu
ENST00000576518.1:n.6247C>T
NM_001123066.3:c.2060C>T	NP_001116538.2:p.Ser687Leu
NM_001123067.3:c.968C>T	NP_001116539.1:p.Ser323Leu
NM_001203251.1:c.875C>T	NP_001190180.1:p.Ser292Leu
NM_001203252.1:c.962C>T	NP_001190181.1:p.Ser321Leu
NM_005910.5:c.1055C>T	NP_005901.2:p.Ser352Leu
NM_016834.4:c.881C>T	NP_058518.1:p.Ser294Leu
NM_016835.4:c.2006C>T	NP_058519.3:p.Ser669Leu
NM_016841.4:c.788C>T	NP_058525.1:p.Ser263Leu
XM_005257362.3:c.2318C>T	XP_005257419.1:p.Ser773Leu
XM_005257364.3:c.2231C>T	XP_005257421.1:p.Ser744Leu
XM_005257365.3:c.2225C>T	XP_005257422.1:p.Ser742Leu
XM_005257366.2:c.2144C>T	XP_005257423.1:p.Ser715Leu
XM_005257367.3:c.2120C>T	XP_005257424.1:p.Ser707Leu
XM_005257368.3:c.2027C>T	XP_005257425.1:p.Ser676Leu
XM_005257369.3:c.1253C>T	XP_005257426.1:p.Ser418Leu
XM_005257370.3:c.1166C>T	XP_005257427.1:p.Ser389Leu
XM_005257371.3:c.1079C>T	XP_005257428.1:p.Ser360Leu
XM_005257362.4:c.2318C>T	XP_005257419.1:p.Ser773Leu
XM_005257364.4:c.2231C>T	XP_005257421.1:p.Ser744Leu
XM_005257365.4:c.2225C>T	XP_005257422.1:p.Ser742Leu
XM_005257366.3:c.2144C>T	XP_005257423.1:p.Ser715Leu
XM_005257367.4:c.2120C>T	XP_005257424.1:p.Ser707Leu
XM_005257368.4:c.2027C>T	XP_005257425.1:p.Ser676Leu
XM_005257369.4:c.1253C>T	XP_005257426.1:p.Ser418Leu
XM_005257370.4:c.1166C>T	XP_005257427.1:p.Ser389Leu
XM_005257371.4:c.1079C>T	XP_005257428.1:p.Ser360Leu
NM_001203251.2:c.875C>T	NP_001190180.1:p.Ser292Leu
NM_001377265.1:c.2231C>T MANE Select	NP_001364194.1:p.Ser744Leu
NM_001377266.1:c.1940C>T	NP_001364195.1:p.Ser647Leu
NM_001377267.1:c.771+4397C>T	NP_001364196.1:n.771+4397C>T
NM_001377268.1:c.788C>T	NP_001364197.1:p.Ser263Leu
NM_016834.5:c.881C>T	NP_058518.1:p.Ser294Leu
NM_016841.5:c.788C>T	NP_058525.1:p.Ser263Leu
NR_165166.1:n.886C>T
NM_001123066.4:c.2060C>T	NP_001116538.2:p.Ser687Leu
NM_001123067.4:c.968C>T	NP_001116539.1:p.Ser323Leu
NM_001203252.2:c.962C>T	NP_001190181.1:p.Ser321Leu
NM_005910.6:c.1055C>T	NP_005901.2:p.Ser352Leu
NM_016835.5:c.2006C>T	NP_058519.3:p.Ser669Leu