Canonical Allele Identifier: CA497546916

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849282C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945987C>A , CM000679.2:g.4945987C>A	GRCh38
NC_000017.10:g.4849282C>A , CM000679.1:g.4849282C>A	GRCh37
NC_000017.9:g.4790027C>A	NCBI36
NG_012063.2:g.4897C>A
NG_032945.1:g.8100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.336G>T MANE Select	ENSP00000225655.5:p.Leu112=
ENST00000225655.5:c.336G>T	ENSP00000225655.5:p.Leu112=
ENST00000574872.1:c.228G>T	ENSP00000465019.1:p.Leu76=
NM_005022.3:c.336G>T	NP_005013.1:p.Leu112=
XM_017024761.1:c.*420G>T	XP_016880250.1:n.*420G>T
NM_001375991.1:c.*420G>T	NP_001362920.1:n.*420G>T
NM_005022.4:c.336G>T MANE Select	NP_005013.1:p.Leu112=