Canonical Allele Identifier: CA2634881176

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88733860-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733860G>C , CM000678.2:g.88733860G>C	GRCh38
NC_000016.9:g.88800268G>C , CM000678.1:g.88800268G>C	GRCh37
NC_000016.8:g.87327769G>C	NCBI36
NG_042229.1:g.56361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2329+46C>G (PIEZO1) MANE Select	ENSP00000301015.9:n.2329+46C>G
ENST00000301015.13:c.2329+46C>G (PIEZO1)	ENSP00000301015.9:n.2329+46C>G
NM_001142864.2:c.2329+46C>G (PIEZO1)	NP_001136336.2:n.2329+46C>G
NM_001142864.3:c.2329+46C>G (PIEZO1)	NP_001136336.2:n.2329+46C>G
NR_103774.1:n.269+2412G>C (HSALR1)
NM_001142864.4:c.2329+46C>G (PIEZO1) MANE Select	NP_001136336.2:n.2329+46C>G