Canonical Allele Identifier: CA260576
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37035
ClinVar RCV Id: RCV000030695 RCV001852610
dbSNP Id: rs387907265
MyVariant Identifiers: chr17:g.4849277A>G (hg19) chr17:g.4945982A>G (hg38)
PubMed: PMID:22801503
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945982A>G , CM000679.2:g.4945982A>G GRCh38
NC_000017.10:g.4849277A>G , CM000679.1:g.4849277A>G GRCh37
NC_000017.9:g.4790022A>G NCBI36
NG_012063.2:g.4892A>G
NG_032945.1:g.8105T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225655.6:c.341T>C MANE Select ENSP00000225655.5:p.Met114Thr
ENST00000225655.5:c.341T>C ENSP00000225655.5:p.Met114Thr
ENST00000574872.1:c.233T>C ENSP00000465019.1:p.Met78Thr
NM_005022.3:c.341T>C NP_005013.1:p.Met114Thr
XM_017024761.1:c.*425T>C XP_016880250.1:n.*425T>C
NM_001375991.1:c.*425T>C NP_001362920.1:n.*425T>C
NM_005022.4:c.341T>C MANE Select NP_005013.1:p.Met114Thr
Search 100 bp 5'
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