Canonical Allele Identifier: CA397338257

Gene: PFN1

Linked Data

• gnomAD v4: 17-4945955-A-G
• MyVariant Identifiers: chr17:g.4849250A>G (hg19) ; chr17:g.4945955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945955A>G , CM000679.2:g.4945955A>G	GRCh38
NC_000017.10:g.4849250A>G , CM000679.1:g.4849250A>G	GRCh37
NC_000017.9:g.4789995A>G	NCBI36
NG_012063.2:g.4865A>G
NG_032945.1:g.8132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.368T>C MANE Select	ENSP00000225655.5:p.Leu123Ser
ENST00000225655.5:c.368T>C	ENSP00000225655.5:p.Leu123Ser
ENST00000574872.1:c.260T>C	ENSP00000465019.1:p.Leu87Ser
NM_005022.3:c.368T>C	NP_005013.1:p.Leu123Ser
XM_017024761.1:c.*452T>C	XP_016880250.1:n.*452T>C
NM_001375991.1:c.*452T>C	NP_001362920.1:n.*452T>C
NM_005022.4:c.368T>C MANE Select	NP_005013.1:p.Leu123Ser