Canonical Allele Identifier: CA225477

Gene: MAPT

Linked Data

• ClinVar Variation Id: 98228
• ClinVar RCV Id: RCV000084545 ; RCV003514309
• dbSNP Id: rs63750095
• MyVariant Identifiers: chr17:g.44095989G>A (hg19) ; chr17:g.46018623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46018623G>A , CM000679.2:g.46018623G>A	GRCh38
NC_000017.10:g.44095989G>A , CM000679.1:g.44095989G>A	GRCh37
NC_000017.9:g.41451836G>A	NCBI36
NG_007398.1:g.129213G>A
NG_007398.2:g.129161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.916G>A	ENSP00000413056.2:p.Gly306Ser
ENST00000703922.1:c.916G>A	ENSP00000515557.1:p.Gly306Ser
ENST00000703923.1:c.829G>A	ENSP00000515558.1:p.Gly277Ser
ENST00000703924.1:c.916G>A	ENSP00000515559.1:p.Gly306Ser
ENST00000703978.1:c.1003G>A	ENSP00000515600.1:p.Gly335Ser
ENST00000703979.1:n.774G>A
ENST00000703980.1:n.229G>A
ENST00000703981.1:n.187G>A
ENST00000703982.1:n.421G>A
ENST00000262410.10:c.2179G>A MANE Select	ENSP00000262410.6:p.Gly727Ser
ENST00000344290.10:c.1888G>A	ENSP00000340820.6:p.Gly630Ser
ENST00000351559.10:c.1003G>A	ENSP00000303214.7:p.Gly335Ser
ENST00000535772.6:c.823G>A	ENSP00000443028.2:p.Gly275Ser
ENST00000680542.1:c.916G>A	ENSP00000505258.1:p.Gly306Ser
ENST00000680674.1:c.952G>A	ENSP00000505478.1:p.Gly318Ser
ENST00000262410.9:c.1954G>A	ENSP00000262410.5:p.Gly652Ser
ENST00000334239.12:c.736G>A	ENSP00000334886.8:p.Gly246Ser
ENST00000340799.9:c.916G>A	ENSP00000340438.5:p.Gly306Ser
ENST00000344290.9:c.2008G>A	ENSP00000340820.5:p.Gly670Ser
ENST00000351559.9:c.1003G>A	ENSP00000303214.7:p.Gly335Ser
ENST00000415613.6:c.2008G>A	ENSP00000410838.2:p.Gly670Ser
ENST00000420682.6:c.916G>A	ENSP00000413056.2:p.Gly306Ser
ENST00000431008.7:c.910G>A	ENSP00000389250.3:p.Gly304Ser
ENST00000446361.7:c.829G>A	ENSP00000408975.3:p.Gly277Ser
ENST00000535772.5:c.910G>A	ENSP00000443028.1:p.Gly304Ser
ENST00000570299.5:n.782G>A
ENST00000571987.5:c.1954G>A	ENSP00000458742.1:p.Gly652Ser
ENST00000574436.5:c.1003G>A	ENSP00000460965.1:p.Gly335Ser
ENST00000576518.1:n.6195G>A
NM_001123066.3:c.2008G>A	NP_001116538.2:p.Gly670Ser
NM_001123067.3:c.916G>A	NP_001116539.1:p.Gly306Ser
NM_001203251.1:c.823G>A	NP_001190180.1:p.Gly275Ser
NM_001203252.1:c.910G>A	NP_001190181.1:p.Gly304Ser
NM_005910.5:c.1003G>A	NP_005901.2:p.Gly335Ser
NM_016834.4:c.829G>A	NP_058518.1:p.Gly277Ser
NM_016835.4:c.1954G>A	NP_058519.3:p.Gly652Ser
NM_016841.4:c.736G>A	NP_058525.1:p.Gly246Ser
XM_005257362.3:c.2266G>A	XP_005257419.1:p.Gly756Ser
XM_005257364.3:c.2179G>A	XP_005257421.1:p.Gly727Ser
XM_005257365.3:c.2173G>A	XP_005257422.1:p.Gly725Ser
XM_005257366.2:c.2092G>A	XP_005257423.1:p.Gly698Ser
XM_005257367.3:c.2068G>A	XP_005257424.1:p.Gly690Ser
XM_005257368.3:c.1975G>A	XP_005257425.1:p.Gly659Ser
XM_005257369.3:c.1201G>A	XP_005257426.1:p.Gly401Ser
XM_005257370.3:c.1114G>A	XP_005257427.1:p.Gly372Ser
XM_005257371.3:c.1027G>A	XP_005257428.1:p.Gly343Ser
XM_005257362.4:c.2266G>A	XP_005257419.1:p.Gly756Ser
XM_005257364.4:c.2179G>A	XP_005257421.1:p.Gly727Ser
XM_005257365.4:c.2173G>A	XP_005257422.1:p.Gly725Ser
XM_005257366.3:c.2092G>A	XP_005257423.1:p.Gly698Ser
XM_005257367.4:c.2068G>A	XP_005257424.1:p.Gly690Ser
XM_005257368.4:c.1975G>A	XP_005257425.1:p.Gly659Ser
XM_005257369.4:c.1201G>A	XP_005257426.1:p.Gly401Ser
XM_005257370.4:c.1114G>A	XP_005257427.1:p.Gly372Ser
XM_005257371.4:c.1027G>A	XP_005257428.1:p.Gly343Ser
NM_001203251.2:c.823G>A	NP_001190180.1:p.Gly275Ser
NM_001377265.1:c.2179G>A MANE Select	NP_001364194.1:p.Gly727Ser
NM_001377266.1:c.1888G>A	NP_001364195.1:p.Gly630Ser
NM_001377267.1:c.771+4345G>A	NP_001364196.1:n.771+4345G>A
NM_001377268.1:c.736G>A	NP_001364197.1:p.Gly246Ser
NM_016834.5:c.829G>A	NP_058518.1:p.Gly277Ser
NM_016841.5:c.736G>A	NP_058525.1:p.Gly246Ser
NR_165166.1:n.834G>A
NM_001123066.4:c.2008G>A	NP_001116538.2:p.Gly670Ser
NM_001123067.4:c.916G>A	NP_001116539.1:p.Gly306Ser
NM_001203252.2:c.910G>A	NP_001190181.1:p.Gly304Ser
NM_005910.6:c.1003G>A	NP_005901.2:p.Gly335Ser
NM_016835.5:c.1954G>A	NP_058519.3:p.Gly652Ser