Canonical Allele Identifier: CA397110607

Gene: PIEZO1 HSALR1

Linked Data

• MyVariant Identifiers: chr16:g.88799070T>C (hg19) ; chr16:g.88732662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732662T>C , CM000678.2:g.88732662T>C	GRCh38
NC_000016.9:g.88799070T>C , CM000678.1:g.88799070T>C	GRCh37
NC_000016.8:g.87326571T>C	NCBI36
NG_042229.1:g.57559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2735A>G (PIEZO1) MANE Select	ENSP00000301015.9:p.Asp912Gly
ENST00000301015.13:c.2735A>G (PIEZO1)	ENSP00000301015.9:p.Asp912Gly
ENST00000490756.1:n.319A>G (PIEZO1)
NM_001142864.2:c.2735A>G (PIEZO1)	NP_001136336.2:p.Asp912Gly
NM_001142864.3:c.2735A>G (PIEZO1)	NP_001136336.2:p.Asp912Gly
NR_103774.1:n.269+1214T>C (HSALR1)
NM_001142864.4:c.2735A>G (PIEZO1) MANE Select	NP_001136336.2:p.Asp912Gly