Canonical Allele Identifier: CA2576136429

Gene: PFN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945824A>T , CM000679.2:g.4945824A>T	GRCh38
NC_000017.10:g.4849119A>T , CM000679.1:g.4849119A>T	GRCh37
NC_000017.9:g.4789864A>T	NCBI36
NG_012063.2:g.4734A>T
NG_032945.1:g.8263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.*76T>A MANE Select	ENSP00000225655.5:n.*76T>A
ENST00000225655.5:c.*76T>A	ENSP00000225655.5:n.*76T>A
ENST00000574872.1:c.*76T>A	ENSP00000465019.1:n.*76T>A
NM_005022.3:c.*76T>A	NP_005013.1:n.*76T>A
XM_017024761.1:c.*583T>A	XP_016880250.1:n.*583T>A
NM_001375991.1:c.*583T>A	NP_001362920.1:n.*583T>A
NM_005022.4:c.*76T>A MANE Select	NP_005013.1:n.*76T>A