Canonical Allele Identifier: CA497366522
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs901901180
MyVariant Identifiers: chr16:g.88800137G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733729G>C , CM000678.2:g.88733729G>C GRCh38
NC_000016.9:g.88800137G>C , CM000678.1:g.88800137G>C GRCh37
NC_000016.8:g.87327638G>C NCBI36
NG_042229.1:g.56492C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2346C>G (PIEZO1) MANE Select ENSP00000301015.9:p.Gly782=
ENST00000301015.13:c.2346C>G (PIEZO1) ENSP00000301015.9:p.Gly782=
NM_001142864.2:c.2346C>G (PIEZO1) NP_001136336.2:p.Gly782=
NM_001142864.3:c.2346C>G (PIEZO1) NP_001136336.2:p.Gly782=
NR_103774.1:n.269+2281G>C (HSALR1)
NM_001142864.4:c.2346C>G (PIEZO1) MANE Select NP_001136336.2:p.Gly782=