Canonical Allele Identifier: CA397123266

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1905399704
• MyVariant Identifiers: chr16:g.88804785C>G (hg19) ; chr16:g.88738377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88738377C>G , CM000678.2:g.88738377C>G	GRCh38
NC_000016.9:g.88804785C>G , CM000678.1:g.88804785C>G	GRCh37
NC_000016.8:g.87332286C>G	NCBI36
NG_042229.1:g.51844G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.698G>C (PIEZO1) MANE Select	ENSP00000301015.9:p.Trp233Ser
ENST00000301015.13:c.698G>C (PIEZO1)	ENSP00000301015.9:p.Trp233Ser
NM_001142864.2:c.698G>C (PIEZO1)	NP_001136336.2:p.Trp233Ser
NM_001142864.3:c.698G>C (PIEZO1)	NP_001136336.2:p.Trp233Ser
NR_103774.1:n.826C>G (HSALR1)
NM_001142864.4:c.698G>C (PIEZO1) MANE Select	NP_001136336.2:p.Trp233Ser