Canonical Allele Identifier: CA397100543
Community Standard Title: NM_001142864.4(PIEZO1):c.4073G>A (p.Arg1358His)
Gene: PIEZO1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88725505C>T , CM000678.2:g.88725505C>T GRCh38
NC_000016.9:g.88791913C>T , CM000678.1:g.88791913C>T GRCh37
NC_000016.8:g.87319414C>T NCBI36
NG_042229.1:g.64716G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.4073G>A MANE Select NP_001136336.2:p.Arg1358His
ENST00000301015.14:c.4073G>A MANE Select ENSP00000301015.9:p.Arg1358His
NM_001142864.2:c.4073G>A NP_001136336.2:p.Arg1358His
NM_001142864.3:c.4073G>A NP_001136336.2:p.Arg1358His
ENST00000301015.13:c.4073G>A ENSP00000301015.9:p.Arg1358His
ENST00000474606.1:c.166G>A
ENST00000475586.1:n.446G>A
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