Canonical Allele Identifier: CA497366197
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1287549486
gnomAD v2: 16-88793464-G-A
gnomAD v4: 16-88727056-G-A
MyVariant Identifiers: chr16:g.88793464G>A (hg19) chr16:g.88727056G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88727056G>A , CM000678.2:g.88727056G>A GRCh38
NC_000016.9:g.88793464G>A , CM000678.1:g.88793464G>A GRCh37
NC_000016.8:g.87320965G>A NCBI36
NG_042229.1:g.63165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.3438C>T MANE Select ENSP00000301015.9:p.Pro1146=
ENST00000491917.2:n.424C>T
ENST00000301015.13:c.3438C>T ENSP00000301015.9:p.Pro1146=
NM_001142864.2:c.3438C>T NP_001136336.2:p.Pro1146=
NM_001142864.3:c.3438C>T NP_001136336.2:p.Pro1146=
NM_001142864.4:c.3438C>T MANE Select NP_001136336.2:p.Pro1146=
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