Canonical Allele Identifier: CA14257904
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88746706G>A , CM000678.2:g.88746706G>A GRCh38
NC_000016.9:g.88813114G>A , CM000678.1:g.88813114G>A GRCh37
NC_000016.8:g.87340615G>A NCBI36
NG_042229.1:g.43515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.160+2678C>T MANE Select ENSP00000301015.9:n.160+2678C>T
ENST00000301015.13:c.160+2678C>T ENSP00000301015.9:n.160+2678C>T
NM_001142864.2:c.160+2678C>T NP_001136336.2:n.160+2678C>T
NM_001142864.3:c.160+2678C>T NP_001136336.2:n.160+2678C>T
NM_001142864.4:c.160+2678C>T MANE Select NP_001136336.2:n.160+2678C>T