Canonical Allele Identifier: CA497546881

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849213A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945918A>G , CM000679.2:g.4945918A>G	GRCh38
NC_000017.10:g.4849213A>G , CM000679.1:g.4849213A>G	GRCh37
NC_000017.9:g.4789958A>G	NCBI36
NG_012063.2:g.4828A>G
NG_032945.1:g.8169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.405T>C MANE Select	ENSP00000225655.5:p.Leu135=
ENST00000225655.5:c.405T>C	ENSP00000225655.5:p.Leu135=
ENST00000574872.1:c.297T>C	ENSP00000465019.1:p.Leu99=
NM_005022.3:c.405T>C	NP_005013.1:p.Leu135=
XM_017024761.1:c.*489T>C	XP_016880250.1:n.*489T>C
NM_001375991.1:c.*489T>C	NP_001362920.1:n.*489T>C
NM_005022.4:c.405T>C MANE Select	NP_005013.1:p.Leu135=