Canonical Allele Identifier: CA082757

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88727144G>A , CM000678.2:g.88727144G>A	GRCh38
NC_000016.9:g.88793552G>A , CM000678.1:g.88793552G>A	GRCh37
NC_000016.8:g.87321053G>A	NCBI36
NG_042229.1:g.63077C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001142864.4:c.3350C>T MANE Select	NP_001136336.2:p.Ser1117Leu
ENST00000301015.14:c.3350C>T MANE Select	ENSP00000301015.9:p.Ser1117Leu
NM_001142864.2:c.3350C>T	NP_001136336.2:p.Ser1117Leu
NM_001142864.3:c.3350C>T	NP_001136336.2:p.Ser1117Leu
ENST00000301015.13:c.3350C>T	ENSP00000301015.9:p.Ser1117Leu
ENST00000491917.1:n.336C>T
ENST00000491917.2:n.336C>T