Canonical Allele Identifier: CA397085246
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786495A>G (hg19) chr16:g.88720087A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720087A>G , CM000678.2:g.88720087A>G GRCh38
NC_000016.9:g.88786495A>G , CM000678.1:g.88786495A>G GRCh37
NC_000016.8:g.87313996A>G NCBI36
NG_042229.1:g.70134T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6146T>C MANE Select ENSP00000301015.9:p.Leu2049Pro
ENST00000466823.3:c.172T>C
ENST00000301015.13:c.6146T>C ENSP00000301015.9:p.Leu2049Pro
ENST00000466823.2:c.172T>C
ENST00000495568.7:n.387T>C
ENST00000497793.2:n.301T>C
NM_001142864.2:c.6146T>C NP_001136336.2:p.Leu2049Pro
NM_001142864.3:c.6146T>C NP_001136336.2:p.Leu2049Pro
NM_001142864.4:c.6146T>C MANE Select NP_001136336.2:p.Leu2049Pro
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