Canonical Allele Identifier: CA2241247194
Community Standard Title: NM_001142864.4(PIEZO1):c.7289C= (p.Pro2430=)
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88715960G= , CM000678.2:g.88715960G= GRCh38
NC_000016.9:g.88782368G= , CM000678.1:g.88782368G= GRCh37
NC_000016.8:g.87309869G= NCBI36
NG_042229.1:g.74261C=

Transcript Alleles

HGVS Amino-acid Change
NM_001142864.4:c.7289C= MANE Select NP_001136336.2:p.Pro2430=
ENST00000301015.14:c.7289C= MANE Select ENSP00000301015.9:p.Pro2430=
NM_001142864.2:c.7289C= NP_001136336.2:p.Pro2430=
NM_001142864.3:c.7289C= NP_001136336.2:p.Pro2430=
ENST00000301015.13:c.7289C= ENSP00000301015.9:p.Pro2430=
ENST00000327397.8:c.882+11C= ENSP00000333704.7:n.882+11C=
ENST00000419505.5:c.1123+11C= ENSP00000406358.1:n.1123+11C=
ENST00000472168.1:n.597C=
ENST00000484567.5:n.1925C=
ENST00000484567.6:n.2348C=
ENST00000518793.5:c.121C=
ENST00000518793.6:c.121C=
ENST00000521877.1:n.253C=