Canonical Allele Identifier: CA2634881171

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88733853-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733853G>A , CM000678.2:g.88733853G>A	GRCh38
NC_000016.9:g.88800261G>A , CM000678.1:g.88800261G>A	GRCh37
NC_000016.8:g.87327762G>A	NCBI36
NG_042229.1:g.56368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2329+53C>T (PIEZO1) MANE Select	ENSP00000301015.9:n.2329+53C>T
ENST00000301015.13:c.2329+53C>T (PIEZO1)	ENSP00000301015.9:n.2329+53C>T
NM_001142864.2:c.2329+53C>T (PIEZO1)	NP_001136336.2:n.2329+53C>T
NM_001142864.3:c.2329+53C>T (PIEZO1)	NP_001136336.2:n.2329+53C>T
NR_103774.1:n.269+2405G>A (HSALR1)
NM_001142864.4:c.2329+53C>T (PIEZO1) MANE Select	NP_001136336.2:n.2329+53C>T