Canonical Allele Identifier: CA397123069

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88738284-T-C
• MyVariant Identifiers: chr16:g.88804692T>C (hg19) ; chr16:g.88738284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88738284T>C , CM000678.2:g.88738284T>C	GRCh38
NC_000016.9:g.88804692T>C , CM000678.1:g.88804692T>C	GRCh37
NC_000016.8:g.87332193T>C	NCBI36
NG_042229.1:g.51937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.791A>G (PIEZO1) MANE Select	ENSP00000301015.9:p.Tyr264Cys
ENST00000301015.13:c.791A>G (PIEZO1)	ENSP00000301015.9:p.Tyr264Cys
NM_001142864.2:c.791A>G (PIEZO1)	NP_001136336.2:p.Tyr264Cys
NM_001142864.3:c.791A>G (PIEZO1)	NP_001136336.2:p.Tyr264Cys
NR_103774.1:n.733T>C (HSALR1)
NM_001142864.4:c.791A>G (PIEZO1) MANE Select	NP_001136336.2:p.Tyr264Cys