Canonical Allele Identifier: CA397123054

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1416605017
• gnomAD v3: 16-88738278-T-C
• gnomAD v4: 16-88738278-T-C
• MyVariant Identifiers: chr16:g.88804686T>C (hg19) ; chr16:g.88738278T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88738278T>C , CM000678.2:g.88738278T>C	GRCh38
NC_000016.9:g.88804686T>C , CM000678.1:g.88804686T>C	GRCh37
NC_000016.8:g.87332187T>C	NCBI36
NG_042229.1:g.51943A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.797A>G (PIEZO1) MANE Select	ENSP00000301015.9:p.Tyr266Cys
ENST00000301015.13:c.797A>G (PIEZO1)	ENSP00000301015.9:p.Tyr266Cys
NM_001142864.2:c.797A>G (PIEZO1)	NP_001136336.2:p.Tyr266Cys
NM_001142864.3:c.797A>G (PIEZO1)	NP_001136336.2:p.Tyr266Cys
NR_103774.1:n.727T>C (HSALR1)
NM_001142864.4:c.797A>G (PIEZO1) MANE Select	NP_001136336.2:p.Tyr266Cys