Canonical Allele Identifier: CA399984589

Gene: MAPT

Linked Data

• gnomAD v4: 17-46024110-C-T
• MyVariant Identifiers: chr17:g.44101476C>T (hg19) ; chr17:g.46024110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46024110C>T , CM000679.2:g.46024110C>T	GRCh38
NC_000017.10:g.44101476C>T , CM000679.1:g.44101476C>T	GRCh37
NC_000017.9:g.41457321C>T	NCBI36
NG_007398.1:g.134698C>T
NG_007398.2:g.134648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.1178C>T	ENSP00000413056.2:p.Ser393Leu
ENST00000703922.1:c.1178C>T	ENSP00000515557.1:p.Ser393Leu
ENST00000703923.1:c.1091C>T	ENSP00000515558.1:p.Ser364Leu
ENST00000703924.1:c.1178C>T	ENSP00000515559.1:p.Ser393Leu
ENST00000703978.1:c.1265C>T	ENSP00000515600.1:p.Ser422Leu
ENST00000703980.1:n.491C>T
ENST00000703981.1:n.449C>T
ENST00000703982.1:n.683C>T
ENST00000262410.10:c.2441C>T MANE Select	ENSP00000262410.6:p.Ser814Leu
ENST00000344290.10:c.2150C>T	ENSP00000340820.6:p.Ser717Leu
ENST00000351559.10:c.1265C>T	ENSP00000303214.7:p.Ser422Leu
ENST00000535772.6:c.1085C>T	ENSP00000443028.2:p.Ser362Leu
ENST00000680542.1:c.1178C>T	ENSP00000505258.1:p.Ser393Leu
ENST00000680674.1:c.1214C>T	ENSP00000505478.1:p.Ser405Leu
ENST00000262410.9:c.2216C>T	ENSP00000262410.5:p.Ser739Leu
ENST00000334239.12:c.998C>T	ENSP00000334886.8:p.Ser333Leu
ENST00000340799.9:c.1178C>T	ENSP00000340438.5:p.Ser393Leu
ENST00000344290.9:c.2270C>T	ENSP00000340820.5:p.Ser757Leu
ENST00000351559.9:c.1265C>T	ENSP00000303214.7:p.Ser422Leu
ENST00000415613.6:c.2270C>T	ENSP00000410838.2:p.Ser757Leu
ENST00000420682.6:c.1178C>T	ENSP00000413056.2:p.Ser393Leu
ENST00000431008.7:c.1172C>T	ENSP00000389250.3:p.Ser391Leu
ENST00000446361.7:c.1091C>T	ENSP00000408975.3:p.Ser364Leu
ENST00000535772.5:c.1172C>T	ENSP00000443028.1:p.Ser391Leu
ENST00000571987.5:c.2216C>T	ENSP00000458742.1:p.Ser739Leu
ENST00000574436.5:c.1265C>T	ENSP00000460965.1:p.Ser422Leu
ENST00000576518.1:n.6457C>T
NM_001123066.3:c.2270C>T	NP_001116538.2:p.Ser757Leu
NM_001123067.3:c.1178C>T	NP_001116539.1:p.Ser393Leu
NM_001203251.1:c.1085C>T	NP_001190180.1:p.Ser362Leu
NM_001203252.1:c.1172C>T	NP_001190181.1:p.Ser391Leu
NM_005910.5:c.1265C>T	NP_005901.2:p.Ser422Leu
NM_016834.4:c.1091C>T	NP_058518.1:p.Ser364Leu
NM_016835.4:c.2216C>T	NP_058519.3:p.Ser739Leu
NM_016841.4:c.998C>T	NP_058525.1:p.Ser333Leu
XM_005257362.3:c.2528C>T	XP_005257419.1:p.Ser843Leu
XM_005257364.3:c.2441C>T	XP_005257421.1:p.Ser814Leu
XM_005257365.3:c.2435C>T	XP_005257422.1:p.Ser812Leu
XM_005257366.2:c.2354C>T	XP_005257423.1:p.Ser785Leu
XM_005257367.3:c.2330C>T	XP_005257424.1:p.Ser777Leu
XM_005257368.3:c.2237C>T	XP_005257425.1:p.Ser746Leu
XM_005257369.3:c.1463C>T	XP_005257426.1:p.Ser488Leu
XM_005257370.3:c.1376C>T	XP_005257427.1:p.Ser459Leu
XM_005257371.3:c.1289C>T	XP_005257428.1:p.Ser430Leu
XM_005257362.4:c.2528C>T	XP_005257419.1:p.Ser843Leu
XM_005257364.4:c.2441C>T	XP_005257421.1:p.Ser814Leu
XM_005257365.4:c.2435C>T	XP_005257422.1:p.Ser812Leu
XM_005257366.3:c.2354C>T	XP_005257423.1:p.Ser785Leu
XM_005257367.4:c.2330C>T	XP_005257424.1:p.Ser777Leu
XM_005257368.4:c.2237C>T	XP_005257425.1:p.Ser746Leu
XM_005257369.4:c.1463C>T	XP_005257426.1:p.Ser488Leu
XM_005257370.4:c.1376C>T	XP_005257427.1:p.Ser459Leu
XM_005257371.4:c.1289C>T	XP_005257428.1:p.Ser430Leu
NM_001203251.2:c.1085C>T	NP_001190180.1:p.Ser362Leu
NM_001377265.1:c.2441C>T MANE Select	NP_001364194.1:p.Ser814Leu
NM_001377266.1:c.2150C>T	NP_001364195.1:p.Ser717Leu
NM_001377267.1:c.772-1007C>T	NP_001364196.1:n.772-1007C>T
NM_001377268.1:c.998C>T	NP_001364197.1:p.Ser333Leu
NM_016834.5:c.1091C>T	NP_058518.1:p.Ser364Leu
NM_016841.5:c.998C>T	NP_058525.1:p.Ser333Leu
NR_165166.1:n.1096C>T
NM_001123066.4:c.2270C>T	NP_001116538.2:p.Ser757Leu
NM_001123067.4:c.1178C>T	NP_001116539.1:p.Ser393Leu
NM_001203252.2:c.1172C>T	NP_001190181.1:p.Ser391Leu
NM_005910.6:c.1265C>T	NP_005901.2:p.Ser422Leu
NM_016835.5:c.2216C>T	NP_058519.3:p.Ser739Leu