Canonical Allele Identifier: CA2576092950

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732594C>G , CM000678.2:g.88732594C>G	GRCh38
NC_000016.9:g.88799002C>G , CM000678.1:g.88799002C>G	GRCh37
NC_000016.8:g.87326503C>G	NCBI36
NG_042229.1:g.57627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2790+13G>C (PIEZO1) MANE Select	ENSP00000301015.9:n.2790+13G>C
ENST00000301015.13:c.2790+13G>C (PIEZO1)	ENSP00000301015.9:n.2790+13G>C
ENST00000490756.1:n.374+13G>C (PIEZO1)
NM_001142864.2:c.2790+13G>C (PIEZO1)	NP_001136336.2:n.2790+13G>C
NM_001142864.3:c.2790+13G>C (PIEZO1)	NP_001136336.2:n.2790+13G>C
NR_103774.1:n.269+1146C>G (HSALR1)
NM_001142864.4:c.2790+13G>C (PIEZO1) MANE Select	NP_001136336.2:n.2790+13G>C