Canonical Allele Identifier: CA397338246

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849248T>A (hg19) ; chr17:g.4945953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945953T>A , CM000679.2:g.4945953T>A	GRCh38
NC_000017.10:g.4849248T>A , CM000679.1:g.4849248T>A	GRCh37
NC_000017.9:g.4789993T>A	NCBI36
NG_012063.2:g.4863T>A
NG_032945.1:g.8134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.370A>T MANE Select	ENSP00000225655.5:p.Ile124Phe
ENST00000225655.5:c.370A>T	ENSP00000225655.5:p.Ile124Phe
ENST00000574872.1:c.262A>T	ENSP00000465019.1:p.Ile88Phe
NM_005022.3:c.370A>T	NP_005013.1:p.Ile124Phe
XM_017024761.1:c.*454A>T	XP_016880250.1:n.*454A>T
NM_001375991.1:c.*454A>T	NP_001362920.1:n.*454A>T
NM_005022.4:c.370A>T MANE Select	NP_005013.1:p.Ile124Phe