Canonical Allele Identifier: CA2576136430
Gene: PFN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945834T>G , CM000679.2:g.4945834T>G GRCh38
NC_000017.10:g.4849129T>G , CM000679.1:g.4849129T>G GRCh37
NC_000017.9:g.4789874T>G NCBI36
NG_012063.2:g.4744T>G
NG_032945.1:g.8253A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*66A>C MANE Select ENSP00000225655.5:n.*66A>C
ENST00000225655.5:c.*66A>C ENSP00000225655.5:n.*66A>C
ENST00000574872.1:c.*66A>C ENSP00000465019.1:n.*66A>C
NM_005022.3:c.*66A>C NP_005013.1:n.*66A>C
XM_017024761.1:c.*573A>C XP_016880250.1:n.*573A>C
NM_001375991.1:c.*573A>C NP_001362920.1:n.*573A>C
NM_005022.4:c.*66A>C MANE Select NP_005013.1:n.*66A>C
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