Canonical Allele Identifier: CA497367793

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88738172-C-A
• MyVariant Identifiers: chr16:g.88804580C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88738172C>A , CM000678.2:g.88738172C>A	GRCh38
NC_000016.9:g.88804580C>A , CM000678.1:g.88804580C>A	GRCh37
NC_000016.8:g.87332081C>A	NCBI36
NG_042229.1:g.52049G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.848+55G>T (PIEZO1) MANE Select	ENSP00000301015.9:n.848+55G>T
ENST00000301015.13:c.848+55G>T (PIEZO1)	ENSP00000301015.9:n.848+55G>T
NM_001142864.2:c.848+55G>T (PIEZO1)	NP_001136336.2:n.848+55G>T
NM_001142864.3:c.848+55G>T (PIEZO1)	NP_001136336.2:n.848+55G>T
NR_103774.1:n.621C>A (HSALR1)
NM_001142864.4:c.848+55G>T (PIEZO1) MANE Select	NP_001136336.2:n.848+55G>T