Canonical Allele Identifier: CA8231707
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs778692471
ExAC: 16:88786482 A / G
gnomAD v2: 16-88786482-A-G
gnomAD v4: 16-88720074-A-G
MyVariant Identifiers: chr16:g.88786482A>G (hg19) chr16:g.88720074A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720074A>G , CM000678.2:g.88720074A>G GRCh38
NC_000016.9:g.88786482A>G , CM000678.1:g.88786482A>G GRCh37
NC_000016.8:g.87313983A>G NCBI36
NG_042229.1:g.70147T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6159T>C MANE Select ENSP00000301015.9:p.Thr2053=
ENST00000466823.3:c.185T>C
ENST00000301015.13:c.6159T>C ENSP00000301015.9:p.Thr2053=
ENST00000466823.2:c.185T>C
ENST00000495568.7:n.400T>C
ENST00000497793.2:n.314T>C
NM_001142864.2:c.6159T>C NP_001136336.2:p.Thr2053=
NM_001142864.3:c.6159T>C NP_001136336.2:p.Thr2053=
NM_001142864.4:c.6159T>C MANE Select NP_001136336.2:p.Thr2053=
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