Canonical Allele Identifier: CA291120391

Gene: MAPT

Linked Data

• dbSNP Id: rs748331933
• gnomAD v3: 17-46027004-C-G
• gnomAD v4: 17-46027004-C-G
• MyVariant Identifiers: chr17:g.44104370C>G (hg19) ; chr17:g.46027004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46027004C>G , CM000679.2:g.46027004C>G	GRCh38
NC_000017.10:g.44104370C>G , CM000679.1:g.44104370C>G	GRCh37
NC_000017.9:g.41460216C>G	NCBI36
NG_007398.1:g.137593C>G
NG_007398.2:g.137542C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262410.10:c.*2833C>G MANE Select	ENSP00000262410.6:n.*2833C>G
ENST00000351559.10:c.*2833C>G	ENSP00000303214.7:n.*2833C>G
ENST00000262410.9:c.*2833C>G	ENSP00000262410.5:n.*2833C>G
ENST00000340799.9:c.*2833C>G	ENSP00000340438.5:n.*2833C>G
ENST00000344290.9:c.*2833C>G	ENSP00000340820.5:n.*2833C>G
ENST00000351559.9:c.*2833C>G	ENSP00000303214.7:n.*2833C>G
ENST00000446361.7:c.*2833C>G	ENSP00000408975.3:n.*2833C>G
ENST00000535772.5:c.*2833C>G	ENSP00000443028.1:n.*2833C>G
NM_001123066.3:c.*2833C>G	NP_001116538.2:n.*2833C>G
NM_001123067.3:c.*2833C>G	NP_001116539.1:n.*2833C>G
NM_001203251.1:c.*2833C>G	NP_001190180.1:n.*2833C>G
NM_001203252.1:c.*2833C>G	NP_001190181.1:n.*2833C>G
NM_005910.5:c.*2833C>G	NP_005901.2:n.*2833C>G
NM_016834.4:c.*2833C>G	NP_058518.1:n.*2833C>G
NM_016835.4:c.*2833C>G	NP_058519.3:n.*2833C>G
NM_016841.4:c.*2833C>G	NP_058525.1:n.*2833C>G
XM_005257362.4:c.*2833C>G	XP_005257419.1:n.*2833C>G
XM_005257364.4:c.*2833C>G	XP_005257421.1:n.*2833C>G
XM_005257365.4:c.*2833C>G	XP_005257422.1:n.*2833C>G
XM_005257366.3:c.*2833C>G	XP_005257423.1:n.*2833C>G
XM_005257367.4:c.*2833C>G	XP_005257424.1:n.*2833C>G
XM_005257368.4:c.*2833C>G	XP_005257425.1:n.*2833C>G
XM_005257369.4:c.*2833C>G	XP_005257426.1:n.*2833C>G
XM_005257370.4:c.*2833C>G	XP_005257427.1:n.*2833C>G
XM_005257371.4:c.*2833C>G	XP_005257428.1:n.*2833C>G
NM_001203251.2:c.*2833C>G	NP_001190180.1:n.*2833C>G
NM_001377265.1:c.*2833C>G MANE Select	NP_001364194.1:n.*2833C>G
NM_001377266.1:c.*2833C>G	NP_001364195.1:n.*2833C>G
NM_001377267.1:c.*1816C>G	NP_001364196.1:n.*1816C>G
NM_001377268.1:c.*2833C>G	NP_001364197.1:n.*2833C>G
NM_016834.5:c.*2833C>G	NP_058518.1:n.*2833C>G
NM_016841.5:c.*2833C>G	NP_058525.1:n.*2833C>G
NR_165166.1:n.3990C>G
NM_001123066.4:c.*2833C>G	NP_001116538.2:n.*2833C>G
NM_001123067.4:c.*2833C>G	NP_001116539.1:n.*2833C>G
NM_001203252.2:c.*2833C>G	NP_001190181.1:n.*2833C>G
NM_005910.6:c.*2833C>G	NP_005901.2:n.*2833C>G
NM_016835.5:c.*2833C>G	NP_058519.3:n.*2833C>G