Canonical Allele Identifier: CA397105359
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs587777765
gnomAD v3: 16-88727144-G-T
gnomAD v4: 16-88727144-G-T
MyVariant Identifiers: chr16:g.88793552G>T (hg19) chr16:g.88727144G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88727144G>T , CM000678.2:g.88727144G>T GRCh38
NC_000016.9:g.88793552G>T , CM000678.1:g.88793552G>T GRCh37
NC_000016.8:g.87321053G>T NCBI36
NG_042229.1:g.63077C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.3350C>A MANE Select ENSP00000301015.9:p.Ser1117Ter
ENST00000491917.2:n.336C>A
ENST00000301015.13:c.3350C>A ENSP00000301015.9:p.Ser1117Ter
ENST00000491917.1:n.336C>A
NM_001142864.2:c.3350C>A NP_001136336.2:p.Ser1117Ter
NM_001142864.3:c.3350C>A NP_001136336.2:p.Ser1117Ter
NM_001142864.4:c.3350C>A MANE Select NP_001136336.2:p.Ser1117Ter
Search 100 bp 5'
Search 100 bp 3'