Canonical Allele Identifier: CA2576093093
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733552C>T , CM000678.2:g.88733552C>T GRCh38
NC_000016.9:g.88799960C>T , CM000678.1:g.88799960C>T GRCh37
NC_000016.8:g.87327461C>T NCBI36
NG_042229.1:g.56669G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.2487+36G>A (PIEZO1) MANE Select ENSP00000301015.9:n.2487+36G>A
ENST00000301015.13:c.2487+36G>A (PIEZO1) ENSP00000301015.9:n.2487+36G>A
NM_001142864.2:c.2487+36G>A (PIEZO1) NP_001136336.2:n.2487+36G>A
NM_001142864.3:c.2487+36G>A (PIEZO1) NP_001136336.2:n.2487+36G>A
NR_103774.1:n.269+2104C>T (HSALR1)
NM_001142864.4:c.2487+36G>A (PIEZO1) MANE Select NP_001136336.2:n.2487+36G>A