Canonical Allele Identifier: CA2241259146
Community Standard Title: NM_001142864.4(PIEZO1):c.465+548A=
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88740930T= , CM000678.2:g.88740930T= GRCh38
NC_000016.9:g.88807338T= , CM000678.1:g.88807338T= GRCh37
NC_000016.8:g.87334839T= NCBI36
NG_042229.1:g.49291A=

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.465+548A= (PIEZO1) MANE Select NP_001136336.2:n.465+548A=
ENST00000301015.14:c.465+548A= (PIEZO1) MANE Select ENSP00000301015.9:n.465+548A=
NM_001142864.2:c.465+548A= (PIEZO1) NP_001136336.2:n.465+548A=
NM_001142864.3:c.465+548A= (PIEZO1) NP_001136336.2:n.465+548A=
NR_103774.1:n.3281T= (HSALR1)
ENST00000301015.13:c.465+548A= (PIEZO1) ENSP00000301015.9:n.465+548A=