Canonical Allele Identifier: CA2808297508
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945869G>A , CM000679.2:g.4945869G>A GRCh38
NC_000017.10:g.4849164G>A , CM000679.1:g.4849164G>A GRCh37
NC_000017.9:g.4789909G>A NCBI36
NG_012063.2:g.4779G>A
NG_032945.1:g.8218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*31C>T MANE Select ENSP00000225655.5:n.*31C>T
ENST00000225655.5:c.*31C>T ENSP00000225655.5:n.*31C>T
ENST00000574872.1:c.*31C>T ENSP00000465019.1:n.*31C>T
NM_005022.3:c.*31C>T NP_005013.1:n.*31C>T
XM_017024761.1:c.*538C>T XP_016880250.1:n.*538C>T
NM_001375991.1:c.*538C>T NP_001362920.1:n.*538C>T
NM_005022.4:c.*31C>T MANE Select NP_005013.1:n.*31C>T