Canonical Allele Identifier: CA2241255474
Community Standard Title: NM_001142864.4(PIEZO1):c.708C= (p.Cys236=)
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738367G= , CM000678.2:g.88738367G= GRCh38
NC_000016.9:g.88804775G= , CM000678.1:g.88804775G= GRCh37
NC_000016.8:g.87332276G= NCBI36
NG_042229.1:g.51854C=

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.708C= (PIEZO1) MANE Select NP_001136336.2:p.Cys236=
ENST00000301015.14:c.708C= (PIEZO1) MANE Select ENSP00000301015.9:p.Cys236=
NM_001142864.2:c.708C= (PIEZO1) NP_001136336.2:p.Cys236=
NM_001142864.3:c.708C= (PIEZO1) NP_001136336.2:p.Cys236=
NR_103774.1:n.816G= (HSALR1)
ENST00000301015.13:c.708C= (PIEZO1) ENSP00000301015.9:p.Cys236=