Canonical Allele Identifier: CA8231710
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs772676371
ExAC: 16:88786494 C / T
gnomAD v2: 16-88786494-C-T
gnomAD v4: 16-88720086-C-T
MyVariant Identifiers: chr16:g.88786494C>T (hg19) chr16:g.88720086C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720086C>T , CM000678.2:g.88720086C>T GRCh38
NC_000016.9:g.88786494C>T , CM000678.1:g.88786494C>T GRCh37
NC_000016.8:g.87313995C>T NCBI36
NG_042229.1:g.70135G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6147G>A MANE Select ENSP00000301015.9:p.Leu2049=
ENST00000466823.3:c.173G>A
ENST00000301015.13:c.6147G>A ENSP00000301015.9:p.Leu2049=
ENST00000466823.2:c.173G>A
ENST00000495568.7:n.388G>A
ENST00000497793.2:n.302G>A
NM_001142864.2:c.6147G>A NP_001136336.2:p.Leu2049=
NM_001142864.3:c.6147G>A NP_001136336.2:p.Leu2049=
NM_001142864.4:c.6147G>A MANE Select NP_001136336.2:p.Leu2049=
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