Canonical Allele Identifier: CA397110200
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88798907C>G (hg19) chr16:g.88732499C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732499C>G , CM000678.2:g.88732499C>G GRCh38
NC_000016.9:g.88798907C>G , CM000678.1:g.88798907C>G GRCh37
NC_000016.8:g.87326408C>G NCBI36
NG_042229.1:g.57722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2827G>C (PIEZO1) MANE Select ENSP00000301015.9:p.Ala943Pro
ENST00000301015.13:c.2827G>C (PIEZO1) ENSP00000301015.9:p.Ala943Pro
ENST00000490756.1:n.411G>C (PIEZO1)
NM_001142864.2:c.2827G>C (PIEZO1) NP_001136336.2:p.Ala943Pro
NM_001142864.3:c.2827G>C (PIEZO1) NP_001136336.2:p.Ala943Pro
NR_103774.1:n.269+1051C>G (HSALR1)
NM_001142864.4:c.2827G>C (PIEZO1) MANE Select NP_001136336.2:p.Ala943Pro
Search 100 bp 5'
Search 100 bp 3'