Canonical Allele Identifier: CA2808297507
Gene: PFN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945865T>A , CM000679.2:g.4945865T>A GRCh38
NC_000017.10:g.4849160T>A , CM000679.1:g.4849160T>A GRCh37
NC_000017.9:g.4789905T>A NCBI36
NG_012063.2:g.4775T>A
NG_032945.1:g.8222A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*35A>T MANE Select ENSP00000225655.5:n.*35A>T
ENST00000225655.5:c.*35A>T ENSP00000225655.5:n.*35A>T
ENST00000574872.1:c.*35A>T ENSP00000465019.1:n.*35A>T
NM_005022.3:c.*35A>T NP_005013.1:n.*35A>T
XM_017024761.1:c.*542A>T XP_016880250.1:n.*542A>T
NM_001375991.1:c.*542A>T NP_001362920.1:n.*542A>T
NM_005022.4:c.*35A>T MANE Select NP_005013.1:n.*35A>T