Canonical Allele Identifier: CA399984522

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44101445T>C (hg19) ; chr17:g.46024079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46024079T>C , CM000679.2:g.46024079T>C	GRCh38
NC_000017.10:g.44101445T>C , CM000679.1:g.44101445T>C	GRCh37
NC_000017.9:g.41457290T>C	NCBI36
NG_007398.1:g.134667T>C
NG_007398.2:g.134617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.1147T>C	ENSP00000413056.2:p.Ser383Pro
ENST00000703922.1:c.1147T>C	ENSP00000515557.1:p.Ser383Pro
ENST00000703923.1:c.1060T>C	ENSP00000515558.1:p.Ser354Pro
ENST00000703924.1:c.1147T>C	ENSP00000515559.1:p.Ser383Pro
ENST00000703978.1:c.1234T>C	ENSP00000515600.1:p.Ser412Pro
ENST00000703980.1:n.460T>C
ENST00000703981.1:n.418T>C
ENST00000703982.1:n.652T>C
ENST00000262410.10:c.2410T>C MANE Select	ENSP00000262410.6:p.Ser804Pro
ENST00000344290.10:c.2119T>C	ENSP00000340820.6:p.Ser707Pro
ENST00000351559.10:c.1234T>C	ENSP00000303214.7:p.Ser412Pro
ENST00000535772.6:c.1054T>C	ENSP00000443028.2:p.Ser352Pro
ENST00000680542.1:c.1147T>C	ENSP00000505258.1:p.Ser383Pro
ENST00000680674.1:c.1183T>C	ENSP00000505478.1:p.Ser395Pro
ENST00000262410.9:c.2185T>C	ENSP00000262410.5:p.Ser729Pro
ENST00000334239.12:c.967T>C	ENSP00000334886.8:p.Ser323Pro
ENST00000340799.9:c.1147T>C	ENSP00000340438.5:p.Ser383Pro
ENST00000344290.9:c.2239T>C	ENSP00000340820.5:p.Ser747Pro
ENST00000351559.9:c.1234T>C	ENSP00000303214.7:p.Ser412Pro
ENST00000415613.6:c.2239T>C	ENSP00000410838.2:p.Ser747Pro
ENST00000420682.6:c.1147T>C	ENSP00000413056.2:p.Ser383Pro
ENST00000431008.7:c.1141T>C	ENSP00000389250.3:p.Ser381Pro
ENST00000446361.7:c.1060T>C	ENSP00000408975.3:p.Ser354Pro
ENST00000535772.5:c.1141T>C	ENSP00000443028.1:p.Ser381Pro
ENST00000571987.5:c.2185T>C	ENSP00000458742.1:p.Ser729Pro
ENST00000574436.5:c.1234T>C	ENSP00000460965.1:p.Ser412Pro
ENST00000576518.1:n.6426T>C
NM_001123066.3:c.2239T>C	NP_001116538.2:p.Ser747Pro
NM_001123067.3:c.1147T>C	NP_001116539.1:p.Ser383Pro
NM_001203251.1:c.1054T>C	NP_001190180.1:p.Ser352Pro
NM_001203252.1:c.1141T>C	NP_001190181.1:p.Ser381Pro
NM_005910.5:c.1234T>C	NP_005901.2:p.Ser412Pro
NM_016834.4:c.1060T>C	NP_058518.1:p.Ser354Pro
NM_016835.4:c.2185T>C	NP_058519.3:p.Ser729Pro
NM_016841.4:c.967T>C	NP_058525.1:p.Ser323Pro
XM_005257362.3:c.2497T>C	XP_005257419.1:p.Ser833Pro
XM_005257364.3:c.2410T>C	XP_005257421.1:p.Ser804Pro
XM_005257365.3:c.2404T>C	XP_005257422.1:p.Ser802Pro
XM_005257366.2:c.2323T>C	XP_005257423.1:p.Ser775Pro
XM_005257367.3:c.2299T>C	XP_005257424.1:p.Ser767Pro
XM_005257368.3:c.2206T>C	XP_005257425.1:p.Ser736Pro
XM_005257369.3:c.1432T>C	XP_005257426.1:p.Ser478Pro
XM_005257370.3:c.1345T>C	XP_005257427.1:p.Ser449Pro
XM_005257371.3:c.1258T>C	XP_005257428.1:p.Ser420Pro
XM_005257362.4:c.2497T>C	XP_005257419.1:p.Ser833Pro
XM_005257364.4:c.2410T>C	XP_005257421.1:p.Ser804Pro
XM_005257365.4:c.2404T>C	XP_005257422.1:p.Ser802Pro
XM_005257366.3:c.2323T>C	XP_005257423.1:p.Ser775Pro
XM_005257367.4:c.2299T>C	XP_005257424.1:p.Ser767Pro
XM_005257368.4:c.2206T>C	XP_005257425.1:p.Ser736Pro
XM_005257369.4:c.1432T>C	XP_005257426.1:p.Ser478Pro
XM_005257370.4:c.1345T>C	XP_005257427.1:p.Ser449Pro
XM_005257371.4:c.1258T>C	XP_005257428.1:p.Ser420Pro
NM_001203251.2:c.1054T>C	NP_001190180.1:p.Ser352Pro
NM_001377265.1:c.2410T>C MANE Select	NP_001364194.1:p.Ser804Pro
NM_001377266.1:c.2119T>C	NP_001364195.1:p.Ser707Pro
NM_001377267.1:c.772-1038T>C	NP_001364196.1:n.772-1038T>C
NM_001377268.1:c.967T>C	NP_001364197.1:p.Ser323Pro
NM_016834.5:c.1060T>C	NP_058518.1:p.Ser354Pro
NM_016841.5:c.967T>C	NP_058525.1:p.Ser323Pro
NR_165166.1:n.1065T>C
NM_001123066.4:c.2239T>C	NP_001116538.2:p.Ser747Pro
NM_001123067.4:c.1147T>C	NP_001116539.1:p.Ser383Pro
NM_001203252.2:c.1141T>C	NP_001190181.1:p.Ser381Pro
NM_005910.6:c.1234T>C	NP_005901.2:p.Ser412Pro
NM_016835.5:c.2185T>C	NP_058519.3:p.Ser729Pro