Canonical Allele Identifier: CA122593
Gene: TEAD1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.12937202T>C
GRCh37 chr11:g.12958749T>C
Revel Score:
ENST00000361905 0.887
ENST00000527636 (MANE Select) 0.887
ENST00000527575 0.887
ENST00000334310 0.887
ENST00000361985 0.887
ENST00000526600 0.887
ClinVar RCV:
RCV000013465
ClinVar Variation:
12630
dbSNP:
11567847
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.12937202T>C , CM000673.2:g.12937202T>C GRCh38
NC_000011.9:g.12958749T>C , CM000673.1:g.12958749T>C GRCh37
NC_000011.8:g.12915325T>C NCBI36
NG_021302.1:g.267781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527575.6:c.1087T>C ENSP00000435977.2:p.Tyr363His
ENST00000527636.7:c.1261T>C MANE Select ENSP00000435233.2:p.Tyr421His
ENST00000334310.10:c.1054T>C ENSP00000334754.6:p.Tyr352His
ENST00000361985.6:c.1066T>C ENSP00000354588.3:p.Tyr356His
ENST00000526600.1:c.973T>C ENSP00000435393.1:p.Tyr325His
ENST00000527575.5:c.1087T>C ENSP00000435977.1:p.Tyr363His
ENST00000527636.5:c.1261T>C ENSP00000435233.1:p.Tyr421His
NM_021961.5:c.1261T>C NP_068780.2:p.Tyr421His
NM_021961.6:c.1261T>C MANE Select NP_068780.2:p.Tyr421His
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