Canonical Allele Identifier: CA397112873
Community Standard Title: NM_001142864.4(PIEZO1):c.2263G>A (p.Glu755Lys)
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733972C>T , CM000678.2:g.88733972C>T GRCh38
NC_000016.9:g.88800380C>T , CM000678.1:g.88800380C>T GRCh37
NC_000016.8:g.87327881C>T NCBI36
NG_042229.1:g.56249G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.2263G>A (PIEZO1) MANE Select NP_001136336.2:p.Glu755Lys
ENST00000301015.14:c.2263G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Glu755Lys
NM_001142864.2:c.2263G>A (PIEZO1) NP_001136336.2:p.Glu755Lys
NM_001142864.3:c.2263G>A (PIEZO1) NP_001136336.2:p.Glu755Lys
NR_103774.1:n.269+2524C>T (HSALR1)
ENST00000301015.13:c.2263G>A (PIEZO1) ENSP00000301015.9:p.Glu755Lys
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