Canonical Allele Identifier: CA2241244287

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912289852

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719673_88719680dup , CM000678.2:g.88719673_88719680dup	GRCh38
NC_000016.9:g.88786081_88786088dup , CM000678.1:g.88786081_88786088dup	GRCh37
NC_000016.8:g.87313582_87313589dup	NCBI36
NG_042229.1:g.70541_70548dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6365_6372dup MANE Select	ENSP00000301015.9:p.Val2125TrpfsTer?
ENST00000466823.3:c.391_398dup
ENST00000301015.13:c.6365_6372dup	ENSP00000301015.9:p.Val2125TrpfsTer?
ENST00000419505.5:c.131_138dup	ENSP00000406358.1:p.Val47TrpfsTer?
ENST00000466823.2:c.391_398dup
ENST00000495568.7:n.606_613dup
ENST00000497793.2:n.520_527dup
NM_001142864.2:c.6365_6372dup	NP_001136336.2:p.Val2125TrpfsTer?
NM_001142864.3:c.6365_6372dup	NP_001136336.2:p.Val2125TrpfsTer?
NM_001142864.4:c.6365_6372dup MANE Select	NP_001136336.2:p.Val2125TrpfsTer?