Canonical Allele Identifier: CA500371389

Gene: MAPT

Linked Data

• gnomAD v4: 17-46023970-G-A
• MyVariant Identifiers: chr17:g.44101336G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023970G>A , CM000679.2:g.46023970G>A	GRCh38
NC_000017.10:g.44101336G>A , CM000679.1:g.44101336G>A	GRCh37
NC_000017.9:g.41457181G>A	NCBI36
NG_007398.1:g.134558G>A
NG_007398.2:g.134508G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1038G>A	ENSP00000413056.2:p.Lys346=
ENST00000703922.1:c.1038G>A	ENSP00000515557.1:p.Lys346=
ENST00000703923.1:c.951G>A	ENSP00000515558.1:p.Lys317=
ENST00000703924.1:c.1038G>A	ENSP00000515559.1:p.Lys346=
ENST00000703978.1:c.1125G>A	ENSP00000515600.1:p.Lys375=
ENST00000703980.1:n.351G>A
ENST00000703981.1:n.309G>A
ENST00000703982.1:n.543G>A
ENST00000262410.10:c.2301G>A MANE Select	ENSP00000262410.6:p.Lys767=
ENST00000344290.10:c.2010G>A	ENSP00000340820.6:p.Lys670=
ENST00000351559.10:c.1125G>A	ENSP00000303214.7:p.Lys375=
ENST00000535772.6:c.945G>A	ENSP00000443028.2:p.Lys315=
ENST00000680542.1:c.1038G>A	ENSP00000505258.1:p.Lys346=
ENST00000680674.1:c.1074G>A	ENSP00000505478.1:p.Lys358=
ENST00000262410.9:c.2076G>A	ENSP00000262410.5:p.Lys692=
ENST00000334239.12:c.858G>A	ENSP00000334886.8:p.Lys286=
ENST00000340799.9:c.1038G>A	ENSP00000340438.5:p.Lys346=
ENST00000344290.9:c.2130G>A	ENSP00000340820.5:p.Lys710=
ENST00000351559.9:c.1125G>A	ENSP00000303214.7:p.Lys375=
ENST00000415613.6:c.2130G>A	ENSP00000410838.2:p.Lys710=
ENST00000420682.6:c.1038G>A	ENSP00000413056.2:p.Lys346=
ENST00000431008.7:c.1032G>A	ENSP00000389250.3:p.Lys344=
ENST00000446361.7:c.951G>A	ENSP00000408975.3:p.Lys317=
ENST00000535772.5:c.1032G>A	ENSP00000443028.1:p.Lys344=
ENST00000571987.5:c.2076G>A	ENSP00000458742.1:p.Lys692=
ENST00000574436.5:c.1125G>A	ENSP00000460965.1:p.Lys375=
ENST00000576518.1:n.6317G>A
NM_001123066.3:c.2130G>A	NP_001116538.2:p.Lys710=
NM_001123067.3:c.1038G>A	NP_001116539.1:p.Lys346=
NM_001203251.1:c.945G>A	NP_001190180.1:p.Lys315=
NM_001203252.1:c.1032G>A	NP_001190181.1:p.Lys344=
NM_005910.5:c.1125G>A	NP_005901.2:p.Lys375=
NM_016834.4:c.951G>A	NP_058518.1:p.Lys317=
NM_016835.4:c.2076G>A	NP_058519.3:p.Lys692=
NM_016841.4:c.858G>A	NP_058525.1:p.Lys286=
XM_005257362.3:c.2388G>A	XP_005257419.1:p.Lys796=
XM_005257364.3:c.2301G>A	XP_005257421.1:p.Lys767=
XM_005257365.3:c.2295G>A	XP_005257422.1:p.Lys765=
XM_005257366.2:c.2214G>A	XP_005257423.1:p.Lys738=
XM_005257367.3:c.2190G>A	XP_005257424.1:p.Lys730=
XM_005257368.3:c.2097G>A	XP_005257425.1:p.Lys699=
XM_005257369.3:c.1323G>A	XP_005257426.1:p.Lys441=
XM_005257370.3:c.1236G>A	XP_005257427.1:p.Lys412=
XM_005257371.3:c.1149G>A	XP_005257428.1:p.Lys383=
XM_005257362.4:c.2388G>A	XP_005257419.1:p.Lys796=
XM_005257364.4:c.2301G>A	XP_005257421.1:p.Lys767=
XM_005257365.4:c.2295G>A	XP_005257422.1:p.Lys765=
XM_005257366.3:c.2214G>A	XP_005257423.1:p.Lys738=
XM_005257367.4:c.2190G>A	XP_005257424.1:p.Lys730=
XM_005257368.4:c.2097G>A	XP_005257425.1:p.Lys699=
XM_005257369.4:c.1323G>A	XP_005257426.1:p.Lys441=
XM_005257370.4:c.1236G>A	XP_005257427.1:p.Lys412=
XM_005257371.4:c.1149G>A	XP_005257428.1:p.Lys383=
NM_001203251.2:c.945G>A	NP_001190180.1:p.Lys315=
NM_001377265.1:c.2301G>A MANE Select	NP_001364194.1:p.Lys767=
NM_001377266.1:c.2010G>A	NP_001364195.1:p.Lys670=
NM_001377267.1:c.772-1147G>A	NP_001364196.1:n.772-1147G>A
NM_001377268.1:c.858G>A	NP_001364197.1:p.Lys286=
NM_016834.5:c.951G>A	NP_058518.1:p.Lys317=
NM_016841.5:c.858G>A	NP_058525.1:p.Lys286=
NR_165166.1:n.956G>A
NM_001123066.4:c.2130G>A	NP_001116538.2:p.Lys710=
NM_001123067.4:c.1038G>A	NP_001116539.1:p.Lys346=
NM_001203252.2:c.1032G>A	NP_001190181.1:p.Lys344=
NM_005910.6:c.1125G>A	NP_005901.2:p.Lys375=
NM_016835.5:c.2076G>A	NP_058519.3:p.Lys692=