Canonical Allele Identifier: CA397070802

Gene: PIEZO1

Linked Data

• MyVariant Identifiers: chr16:g.88782122A>C (hg19) ; chr16:g.88715714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715714A>C , CM000678.2:g.88715714A>C	GRCh38
NC_000016.9:g.88782122A>C , CM000678.1:g.88782122A>C	GRCh37
NC_000016.8:g.87309623A>C	NCBI36
NG_042229.1:g.74507T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.7457T>G MANE Select	ENSP00000301015.9:p.Leu2486Arg
ENST00000484567.6:n.2516T>G
ENST00000518793.6:c.289T>G
ENST00000301015.13:c.7457T>G	ENSP00000301015.9:p.Leu2486Arg
ENST00000327397.8:c.1023T>G	ENSP00000333704.7:p.Pro341=
ENST00000419505.5:c.1264T>G	ENSP00000406358.1:n.1264T>G
ENST00000484567.5:n.2093T>G
ENST00000518793.5:c.289T>G
ENST00000521877.1:n.421T>G
NM_001142864.2:c.7457T>G	NP_001136336.2:p.Leu2486Arg
NM_001142864.3:c.7457T>G	NP_001136336.2:p.Leu2486Arg
NM_001142864.4:c.7457T>G MANE Select	NP_001136336.2:p.Leu2486Arg