Canonical Allele Identifier: CA2244642539

Gene: PFN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945956A= , CM000679.2:g.4945956A=	GRCh38
NC_000017.10:g.4849251A= , CM000679.1:g.4849251A=	GRCh37
NC_000017.9:g.4789996A=	NCBI36
NG_012063.2:g.4866A=
NG_032945.1:g.8131T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.367T= MANE Select	ENSP00000225655.5:p.Leu123=
ENST00000225655.5:c.367T=	ENSP00000225655.5:p.Leu123=
ENST00000574872.1:c.259T=	ENSP00000465019.1:p.Leu87=
NM_005022.3:c.367T=	NP_005013.1:p.Leu123=
XM_017024761.1:c.*451T=	XP_016880250.1:n.*451T=
NM_001375991.1:c.*451T=	NP_001362920.1:n.*451T=
NM_005022.4:c.367T= MANE Select	NP_005013.1:p.Leu123=