Canonical Allele Identifier: CA2244642498

Gene: PFN1

Genomic Alleles

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

Transcript Alleles

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