Canonical Allele Identifier: CA397100536

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88725505C>A , CM000678.2:g.88725505C>A	GRCh38
NC_000016.9:g.88791913C>A , CM000678.1:g.88791913C>A	GRCh37
NC_000016.8:g.87319414C>A	NCBI36
NG_042229.1:g.64716G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142864.4:c.4073G>T MANE Select	NP_001136336.2:p.Arg1358Leu
ENST00000301015.14:c.4073G>T MANE Select	ENSP00000301015.9:p.Arg1358Leu
NM_001142864.2:c.4073G>T	NP_001136336.2:p.Arg1358Leu
NM_001142864.3:c.4073G>T	NP_001136336.2:p.Arg1358Leu
ENST00000301015.13:c.4073G>T	ENSP00000301015.9:p.Arg1358Leu
ENST00000474606.1:c.166G>T
ENST00000475586.1:n.446G>T