Canonical Allele Identifier: CA397338307

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849263C>A (hg19) ; chr17:g.4945968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945968C>A , CM000679.2:g.4945968C>A	GRCh38
NC_000017.10:g.4849263C>A , CM000679.1:g.4849263C>A	GRCh37
NC_000017.9:g.4790008C>A	NCBI36
NG_012063.2:g.4878C>A
NG_032945.1:g.8119G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.355G>T MANE Select	ENSP00000225655.5:p.Val119Phe
ENST00000225655.5:c.355G>T	ENSP00000225655.5:p.Val119Phe
ENST00000574872.1:c.247G>T	ENSP00000465019.1:p.Val83Phe
NM_005022.3:c.355G>T	NP_005013.1:p.Val119Phe
XM_017024761.1:c.*439G>T	XP_016880250.1:n.*439G>T
NM_001375991.1:c.*439G>T	NP_001362920.1:n.*439G>T
NM_005022.4:c.355G>T MANE Select	NP_005013.1:p.Val119Phe