Canonical Allele Identifier: CA2808067341

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733854G>C , CM000678.2:g.88733854G>C	GRCh38
NC_000016.9:g.88800262G>C , CM000678.1:g.88800262G>C	GRCh37
NC_000016.8:g.87327763G>C	NCBI36
NG_042229.1:g.56367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2329+52C>G (PIEZO1) MANE Select	ENSP00000301015.9:n.2329+52C>G
ENST00000301015.13:c.2329+52C>G (PIEZO1)	ENSP00000301015.9:n.2329+52C>G
NM_001142864.2:c.2329+52C>G (PIEZO1)	NP_001136336.2:n.2329+52C>G
NM_001142864.3:c.2329+52C>G (PIEZO1)	NP_001136336.2:n.2329+52C>G
NR_103774.1:n.269+2406G>C (HSALR1)
NM_001142864.4:c.2329+52C>G (PIEZO1) MANE Select	NP_001136336.2:n.2329+52C>G