Canonical Allele Identifier: CA2241262652
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734501C= , CM000678.2:g.88734501C= GRCh38
NC_000016.9:g.88800909C= , CM000678.1:g.88800909C= GRCh37
NC_000016.8:g.87328410C= NCBI36
NG_042229.1:g.55720G=

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.2035G= (PIEZO1) MANE Select NP_001136336.2:p.Glu679=
ENST00000301015.14:c.2035G= (PIEZO1) MANE Select ENSP00000301015.9:p.Glu679=
NM_001142864.2:c.2035G= (PIEZO1) NP_001136336.2:p.Glu679=
NM_001142864.3:c.2035G= (PIEZO1) NP_001136336.2:p.Glu679=
NR_103774.1:n.269+3053C= (HSALR1)
ENST00000301015.13:c.2035G= (PIEZO1) ENSP00000301015.9:p.Glu679=