Canonical Allele Identifier: CA497546883

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849219G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945924G>C , CM000679.2:g.4945924G>C	GRCh38
NC_000017.10:g.4849219G>C , CM000679.1:g.4849219G>C	GRCh37
NC_000017.9:g.4789964G>C	NCBI36
NG_012063.2:g.4834G>C
NG_032945.1:g.8163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.399C>G MANE Select	ENSP00000225655.5:p.Ser133=
ENST00000225655.5:c.399C>G	ENSP00000225655.5:p.Ser133=
ENST00000574872.1:c.291C>G	ENSP00000465019.1:p.Ser97=
NM_005022.3:c.399C>G	NP_005013.1:p.Ser133=
XM_017024761.1:c.*483C>G	XP_016880250.1:n.*483C>G
NM_001375991.1:c.*483C>G	NP_001362920.1:n.*483C>G
NM_005022.4:c.399C>G MANE Select	NP_005013.1:p.Ser133=