Canonical Allele Identifier: CA2241261066
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732403G= , CM000678.2:g.88732403G= GRCh38
NC_000016.9:g.88798811G= , CM000678.1:g.88798811G= GRCh37
NC_000016.8:g.87326312G= NCBI36
NG_042229.1:g.57818C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2923C= (PIEZO1) MANE Select ENSP00000301015.9:p.Leu975=
ENST00000301015.13:c.2923C= (PIEZO1) ENSP00000301015.9:p.Leu975=
NM_001142864.2:c.2923C= (PIEZO1) NP_001136336.2:p.Leu975=
NM_001142864.3:c.2923C= (PIEZO1) NP_001136336.2:p.Leu975=
NR_103774.1:n.269+955G= (HSALR1)
NM_001142864.4:c.2923C= (PIEZO1) MANE Select NP_001136336.2:p.Leu975=
Search 100 bp 5'
Search 100 bp 3'