Canonical Allele Identifier: CA399984525

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44101446C>G (hg19) ; chr17:g.46024080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46024080C>G , CM000679.2:g.46024080C>G	GRCh38
NC_000017.10:g.44101446C>G , CM000679.1:g.44101446C>G	GRCh37
NC_000017.9:g.41457291C>G	NCBI36
NG_007398.1:g.134668C>G
NG_007398.2:g.134618C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.1148C>G	ENSP00000413056.2:p.Ser383Cys
ENST00000703922.1:c.1148C>G	ENSP00000515557.1:p.Ser383Cys
ENST00000703923.1:c.1061C>G	ENSP00000515558.1:p.Ser354Cys
ENST00000703924.1:c.1148C>G	ENSP00000515559.1:p.Ser383Cys
ENST00000703978.1:c.1235C>G	ENSP00000515600.1:p.Ser412Cys
ENST00000703980.1:n.461C>G
ENST00000703981.1:n.419C>G
ENST00000703982.1:n.653C>G
ENST00000262410.10:c.2411C>G MANE Select	ENSP00000262410.6:p.Ser804Cys
ENST00000344290.10:c.2120C>G	ENSP00000340820.6:p.Ser707Cys
ENST00000351559.10:c.1235C>G	ENSP00000303214.7:p.Ser412Cys
ENST00000535772.6:c.1055C>G	ENSP00000443028.2:p.Ser352Cys
ENST00000680542.1:c.1148C>G	ENSP00000505258.1:p.Ser383Cys
ENST00000680674.1:c.1184C>G	ENSP00000505478.1:p.Ser395Cys
ENST00000262410.9:c.2186C>G	ENSP00000262410.5:p.Ser729Cys
ENST00000334239.12:c.968C>G	ENSP00000334886.8:p.Ser323Cys
ENST00000340799.9:c.1148C>G	ENSP00000340438.5:p.Ser383Cys
ENST00000344290.9:c.2240C>G	ENSP00000340820.5:p.Ser747Cys
ENST00000351559.9:c.1235C>G	ENSP00000303214.7:p.Ser412Cys
ENST00000415613.6:c.2240C>G	ENSP00000410838.2:p.Ser747Cys
ENST00000420682.6:c.1148C>G	ENSP00000413056.2:p.Ser383Cys
ENST00000431008.7:c.1142C>G	ENSP00000389250.3:p.Ser381Cys
ENST00000446361.7:c.1061C>G	ENSP00000408975.3:p.Ser354Cys
ENST00000535772.5:c.1142C>G	ENSP00000443028.1:p.Ser381Cys
ENST00000571987.5:c.2186C>G	ENSP00000458742.1:p.Ser729Cys
ENST00000574436.5:c.1235C>G	ENSP00000460965.1:p.Ser412Cys
ENST00000576518.1:n.6427C>G
NM_001123066.3:c.2240C>G	NP_001116538.2:p.Ser747Cys
NM_001123067.3:c.1148C>G	NP_001116539.1:p.Ser383Cys
NM_001203251.1:c.1055C>G	NP_001190180.1:p.Ser352Cys
NM_001203252.1:c.1142C>G	NP_001190181.1:p.Ser381Cys
NM_005910.5:c.1235C>G	NP_005901.2:p.Ser412Cys
NM_016834.4:c.1061C>G	NP_058518.1:p.Ser354Cys
NM_016835.4:c.2186C>G	NP_058519.3:p.Ser729Cys
NM_016841.4:c.968C>G	NP_058525.1:p.Ser323Cys
XM_005257362.3:c.2498C>G	XP_005257419.1:p.Ser833Cys
XM_005257364.3:c.2411C>G	XP_005257421.1:p.Ser804Cys
XM_005257365.3:c.2405C>G	XP_005257422.1:p.Ser802Cys
XM_005257366.2:c.2324C>G	XP_005257423.1:p.Ser775Cys
XM_005257367.3:c.2300C>G	XP_005257424.1:p.Ser767Cys
XM_005257368.3:c.2207C>G	XP_005257425.1:p.Ser736Cys
XM_005257369.3:c.1433C>G	XP_005257426.1:p.Ser478Cys
XM_005257370.3:c.1346C>G	XP_005257427.1:p.Ser449Cys
XM_005257371.3:c.1259C>G	XP_005257428.1:p.Ser420Cys
XM_005257362.4:c.2498C>G	XP_005257419.1:p.Ser833Cys
XM_005257364.4:c.2411C>G	XP_005257421.1:p.Ser804Cys
XM_005257365.4:c.2405C>G	XP_005257422.1:p.Ser802Cys
XM_005257366.3:c.2324C>G	XP_005257423.1:p.Ser775Cys
XM_005257367.4:c.2300C>G	XP_005257424.1:p.Ser767Cys
XM_005257368.4:c.2207C>G	XP_005257425.1:p.Ser736Cys
XM_005257369.4:c.1433C>G	XP_005257426.1:p.Ser478Cys
XM_005257370.4:c.1346C>G	XP_005257427.1:p.Ser449Cys
XM_005257371.4:c.1259C>G	XP_005257428.1:p.Ser420Cys
NM_001203251.2:c.1055C>G	NP_001190180.1:p.Ser352Cys
NM_001377265.1:c.2411C>G MANE Select	NP_001364194.1:p.Ser804Cys
NM_001377266.1:c.2120C>G	NP_001364195.1:p.Ser707Cys
NM_001377267.1:c.772-1037C>G	NP_001364196.1:n.772-1037C>G
NM_001377268.1:c.968C>G	NP_001364197.1:p.Ser323Cys
NM_016834.5:c.1061C>G	NP_058518.1:p.Ser354Cys
NM_016841.5:c.968C>G	NP_058525.1:p.Ser323Cys
NR_165166.1:n.1066C>G
NM_001123066.4:c.2240C>G	NP_001116538.2:p.Ser747Cys
NM_001123067.4:c.1148C>G	NP_001116539.1:p.Ser383Cys
NM_001203252.2:c.1142C>G	NP_001190181.1:p.Ser381Cys
NM_005910.6:c.1235C>G	NP_005901.2:p.Ser412Cys
NM_016835.5:c.2186C>G	NP_058519.3:p.Ser729Cys