Canonical Allele Identifier: CA397338100

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849217T>C (hg19) ; chr17:g.4945922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945922T>C , CM000679.2:g.4945922T>C	GRCh38
NC_000017.10:g.4849217T>C , CM000679.1:g.4849217T>C	GRCh37
NC_000017.9:g.4789962T>C	NCBI36
NG_012063.2:g.4832T>C
NG_032945.1:g.8165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.401A>G MANE Select	ENSP00000225655.5:p.His134Arg
ENST00000225655.5:c.401A>G	ENSP00000225655.5:p.His134Arg
ENST00000574872.1:c.293A>G	ENSP00000465019.1:p.His98Arg
NM_005022.3:c.401A>G	NP_005013.1:p.His134Arg
XM_017024761.1:c.*485A>G	XP_016880250.1:n.*485A>G
NM_001375991.1:c.*485A>G	NP_001362920.1:n.*485A>G
NM_005022.4:c.401A>G MANE Select	NP_005013.1:p.His134Arg