Canonical Allele Identifier: CA2241262235
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733938G= , CM000678.2:g.88733938G= GRCh38
NC_000016.9:g.88800346G= , CM000678.1:g.88800346G= GRCh37
NC_000016.8:g.87327847G= NCBI36
NG_042229.1:g.56283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2297C= (PIEZO1) MANE Select ENSP00000301015.9:p.Ala766=
ENST00000301015.13:c.2297C= (PIEZO1) ENSP00000301015.9:p.Ala766=
NM_001142864.2:c.2297C= (PIEZO1) NP_001136336.2:p.Ala766=
NM_001142864.3:c.2297C= (PIEZO1) NP_001136336.2:p.Ala766=
NR_103774.1:n.269+2490G= (HSALR1)
NM_001142864.4:c.2297C= (PIEZO1) MANE Select NP_001136336.2:p.Ala766=