Canonical Allele Identifier: CA2241262020
Community Standard Title: NM_001142864.4(PIEZO1):c.2431G= (p.Glu811=)
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733644C= , CM000678.2:g.88733644C= GRCh38
NC_000016.9:g.88800052C= , CM000678.1:g.88800052C= GRCh37
NC_000016.8:g.87327553C= NCBI36
NG_042229.1:g.56577G=

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.2431G= (PIEZO1) MANE Select NP_001136336.2:p.Glu811=
ENST00000301015.14:c.2431G= (PIEZO1) MANE Select ENSP00000301015.9:p.Glu811=
NM_001142864.2:c.2431G= (PIEZO1) NP_001136336.2:p.Glu811=
NM_001142864.3:c.2431G= (PIEZO1) NP_001136336.2:p.Glu811=
NR_103774.1:n.269+2196C= (HSALR1)
ENST00000301015.13:c.2431G= (PIEZO1) ENSP00000301015.9:p.Glu811=