Canonical Allele Identifier: CA10650301

Gene: MAPT MAPT-AS1

Linked Data

• ClinVar Variation Id: 323635
• ClinVar RCV Id: RCV000294063
• dbSNP Id: rs886053024
• MyVariant Identifiers: chr17:g.43971825C>T (hg19) ; chr17:g.45894459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45894459C>T , CM000679.2:g.45894459C>T	GRCh38
NC_000017.10:g.43971825C>T , CM000679.1:g.43971825C>T	GRCh37
NC_000017.9:g.41327619C>T	NCBI36
NG_007398.1:g.4996C>T
NG_007398.2:g.4997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262410.9:c.-245C>T (MAPT)	ENSP00000262410.5:n.-245C>T
ENST00000340799.9:c.-245C>T (MAPT)	ENSP00000340438.5:n.-245C>T
ENST00000344290.9:c.-245C>T (MAPT)	ENSP00000340820.5:n.-245C>T
ENST00000351559.9:c.-245C>T (MAPT)	ENSP00000303214.7:n.-245C>T
ENST00000535772.5:c.-245C>T (MAPT)	ENSP00000443028.1:n.-245C>T
NM_001123066.3:c.-245C>T (MAPT)	NP_001116538.2:n.-245C>T
NM_001123067.3:c.-245C>T (MAPT)	NP_001116539.1:n.-245C>T
NM_001203251.1:c.-245C>T (MAPT)	NP_001190180.1:n.-245C>T
NM_001203252.1:c.-245C>T (MAPT)	NP_001190181.1:n.-245C>T
NM_005910.5:c.-245C>T (MAPT)	NP_005901.2:n.-245C>T
NM_016834.4:c.-245C>T (MAPT)	NP_058518.1:n.-245C>T
NM_016835.4:c.-245C>T (MAPT)	NP_058519.3:n.-245C>T
NM_016841.4:c.-245C>T (MAPT)	NP_058525.1:n.-245C>T
NR_024559.1:n.34+1021G>A (MAPT-AS1)