Canonical Allele Identifier: CA397338340

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849270T>G (hg19) ; chr17:g.4945975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945975T>G , CM000679.2:g.4945975T>G	GRCh38
NC_000017.10:g.4849270T>G , CM000679.1:g.4849270T>G	GRCh37
NC_000017.9:g.4790015T>G	NCBI36
NG_012063.2:g.4885T>G
NG_032945.1:g.8112A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.348A>C MANE Select	ENSP00000225655.5:p.Lys116Asn
ENST00000225655.5:c.348A>C	ENSP00000225655.5:p.Lys116Asn
ENST00000574872.1:c.240A>C	ENSP00000465019.1:p.Lys80Asn
NM_005022.3:c.348A>C	NP_005013.1:p.Lys116Asn
XM_017024761.1:c.*432A>C	XP_016880250.1:n.*432A>C
NM_001375991.1:c.*432A>C	NP_001362920.1:n.*432A>C
NM_005022.4:c.348A>C MANE Select	NP_005013.1:p.Lys116Asn