Canonical Allele Identifier: CA2241262190

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1905037939
• gnomAD v3: 16-88733865-A-AG
• gnomAD v4: 16-88733865-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733866dup , CM000678.2:g.88733866dup	GRCh38
NC_000016.9:g.88800274dup , CM000678.1:g.88800274dup	GRCh37
NC_000016.8:g.87327775dup	NCBI36
NG_042229.1:g.56355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2329+40dup (PIEZO1) MANE Select	ENSP00000301015.9:n.2329+40dup
ENST00000301015.13:c.2329+40dup (PIEZO1)	ENSP00000301015.9:n.2329+40dup
NM_001142864.2:c.2329+40dup (PIEZO1)	NP_001136336.2:n.2329+40dup
NM_001142864.3:c.2329+40dup (PIEZO1)	NP_001136336.2:n.2329+40dup
NR_103774.1:n.269+2418dup (HSALR1)
NM_001142864.4:c.2329+40dup (PIEZO1) MANE Select	NP_001136336.2:n.2329+40dup