Canonical Allele Identifier: CA397338173
Gene: PFN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4849232T>C (hg19) chr17:g.4945937T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945937T>C , CM000679.2:g.4945937T>C GRCh38
NC_000017.10:g.4849232T>C , CM000679.1:g.4849232T>C GRCh37
NC_000017.9:g.4789977T>C NCBI36
NG_012063.2:g.4847T>C
NG_032945.1:g.8150A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.386A>G MANE Select ENSP00000225655.5:p.Tyr129Cys
ENST00000225655.5:c.386A>G ENSP00000225655.5:p.Tyr129Cys
ENST00000574872.1:c.278A>G ENSP00000465019.1:p.Tyr93Cys
NM_005022.3:c.386A>G NP_005013.1:p.Tyr129Cys
XM_017024761.1:c.*470A>G XP_016880250.1:n.*470A>G
NM_001375991.1:c.*470A>G NP_001362920.1:n.*470A>G
NM_005022.4:c.386A>G MANE Select NP_005013.1:p.Tyr129Cys
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Search 100 bp 3'