Canonical Allele Identifier: CA399983688

Gene: MAPT

Linked Data

• MyVariant Identifiers: chr17:g.44096017T>A (hg19) ; chr17:g.46018651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018651T>A , CM000679.2:g.46018651T>A	GRCh38
NC_000017.10:g.44096017T>A , CM000679.1:g.44096017T>A	GRCh37
NC_000017.9:g.41451864T>A	NCBI36
NG_007398.1:g.129241T>A
NG_007398.2:g.129189T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.944T>A	ENSP00000413056.2:p.Leu315His
ENST00000703922.1:c.944T>A	ENSP00000515557.1:p.Leu315His
ENST00000703923.1:c.857T>A	ENSP00000515558.1:p.Leu286His
ENST00000703924.1:c.944T>A	ENSP00000515559.1:p.Leu315His
ENST00000703978.1:c.1031T>A	ENSP00000515600.1:p.Leu344His
ENST00000703979.1:n.802T>A
ENST00000703980.1:n.257T>A
ENST00000703981.1:n.215T>A
ENST00000703982.1:n.449T>A
ENST00000262410.10:c.2207T>A MANE Select	ENSP00000262410.6:p.Leu736His
ENST00000344290.10:c.1916T>A	ENSP00000340820.6:p.Leu639His
ENST00000351559.10:c.1031T>A	ENSP00000303214.7:p.Leu344His
ENST00000535772.6:c.851T>A	ENSP00000443028.2:p.Leu284His
ENST00000680542.1:c.944T>A	ENSP00000505258.1:p.Leu315His
ENST00000680674.1:c.980T>A	ENSP00000505478.1:p.Leu327His
ENST00000262410.9:c.1982T>A	ENSP00000262410.5:p.Leu661His
ENST00000334239.12:c.764T>A	ENSP00000334886.8:p.Leu255His
ENST00000340799.9:c.944T>A	ENSP00000340438.5:p.Leu315His
ENST00000344290.9:c.2036T>A	ENSP00000340820.5:p.Leu679His
ENST00000351559.9:c.1031T>A	ENSP00000303214.7:p.Leu344His
ENST00000415613.6:c.2036T>A	ENSP00000410838.2:p.Leu679His
ENST00000420682.6:c.944T>A	ENSP00000413056.2:p.Leu315His
ENST00000431008.7:c.938T>A	ENSP00000389250.3:p.Leu313His
ENST00000446361.7:c.857T>A	ENSP00000408975.3:p.Leu286His
ENST00000535772.5:c.938T>A	ENSP00000443028.1:p.Leu313His
ENST00000570299.5:n.810T>A
ENST00000571987.5:c.1982T>A	ENSP00000458742.1:p.Leu661His
ENST00000574436.5:c.1031T>A	ENSP00000460965.1:p.Leu344His
ENST00000576518.1:n.6223T>A
NM_001123066.3:c.2036T>A	NP_001116538.2:p.Leu679His
NM_001123067.3:c.944T>A	NP_001116539.1:p.Leu315His
NM_001203251.1:c.851T>A	NP_001190180.1:p.Leu284His
NM_001203252.1:c.938T>A	NP_001190181.1:p.Leu313His
NM_005910.5:c.1031T>A	NP_005901.2:p.Leu344His
NM_016834.4:c.857T>A	NP_058518.1:p.Leu286His
NM_016835.4:c.1982T>A	NP_058519.3:p.Leu661His
NM_016841.4:c.764T>A	NP_058525.1:p.Leu255His
XM_005257362.3:c.2294T>A	XP_005257419.1:p.Leu765His
XM_005257364.3:c.2207T>A	XP_005257421.1:p.Leu736His
XM_005257365.3:c.2201T>A	XP_005257422.1:p.Leu734His
XM_005257366.2:c.2120T>A	XP_005257423.1:p.Leu707His
XM_005257367.3:c.2096T>A	XP_005257424.1:p.Leu699His
XM_005257368.3:c.2003T>A	XP_005257425.1:p.Leu668His
XM_005257369.3:c.1229T>A	XP_005257426.1:p.Leu410His
XM_005257370.3:c.1142T>A	XP_005257427.1:p.Leu381His
XM_005257371.3:c.1055T>A	XP_005257428.1:p.Leu352His
XM_005257362.4:c.2294T>A	XP_005257419.1:p.Leu765His
XM_005257364.4:c.2207T>A	XP_005257421.1:p.Leu736His
XM_005257365.4:c.2201T>A	XP_005257422.1:p.Leu734His
XM_005257366.3:c.2120T>A	XP_005257423.1:p.Leu707His
XM_005257367.4:c.2096T>A	XP_005257424.1:p.Leu699His
XM_005257368.4:c.2003T>A	XP_005257425.1:p.Leu668His
XM_005257369.4:c.1229T>A	XP_005257426.1:p.Leu410His
XM_005257370.4:c.1142T>A	XP_005257427.1:p.Leu381His
XM_005257371.4:c.1055T>A	XP_005257428.1:p.Leu352His
NM_001203251.2:c.851T>A	NP_001190180.1:p.Leu284His
NM_001377265.1:c.2207T>A MANE Select	NP_001364194.1:p.Leu736His
NM_001377266.1:c.1916T>A	NP_001364195.1:p.Leu639His
NM_001377267.1:c.771+4373T>A	NP_001364196.1:n.771+4373T>A
NM_001377268.1:c.764T>A	NP_001364197.1:p.Leu255His
NM_016834.5:c.857T>A	NP_058518.1:p.Leu286His
NM_016841.5:c.764T>A	NP_058525.1:p.Leu255His
NR_165166.1:n.862T>A
NM_001123066.4:c.2036T>A	NP_001116538.2:p.Leu679His
NM_001123067.4:c.944T>A	NP_001116539.1:p.Leu315His
NM_001203252.2:c.938T>A	NP_001190181.1:p.Leu313His
NM_005910.6:c.1031T>A	NP_005901.2:p.Leu344His
NM_016835.5:c.1982T>A	NP_058519.3:p.Leu661His