Canonical Allele Identifier: CA397085193
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786487C>G (hg19) chr16:g.88720079C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720079C>G , CM000678.2:g.88720079C>G GRCh38
NC_000016.9:g.88786487C>G , CM000678.1:g.88786487C>G GRCh37
NC_000016.8:g.87313988C>G NCBI36
NG_042229.1:g.70142G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6154G>C MANE Select ENSP00000301015.9:p.Val2052Leu
ENST00000466823.3:c.180G>C
ENST00000301015.13:c.6154G>C ENSP00000301015.9:p.Val2052Leu
ENST00000466823.2:c.180G>C
ENST00000495568.7:n.395G>C
ENST00000497793.2:n.309G>C
NM_001142864.2:c.6154G>C NP_001136336.2:p.Val2052Leu
NM_001142864.3:c.6154G>C NP_001136336.2:p.Val2052Leu
NM_001142864.4:c.6154G>C MANE Select NP_001136336.2:p.Val2052Leu
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