Canonical Allele Identifier: CA397338360

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849275C>T (hg19) ; chr17:g.4945980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945980C>T , CM000679.2:g.4945980C>T	GRCh38
NC_000017.10:g.4849275C>T , CM000679.1:g.4849275C>T	GRCh37
NC_000017.9:g.4790020C>T	NCBI36
NG_012063.2:g.4890C>T
NG_032945.1:g.8107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.343G>A MANE Select	ENSP00000225655.5:p.Gly115Ser
ENST00000225655.5:c.343G>A	ENSP00000225655.5:p.Gly115Ser
ENST00000574872.1:c.235G>A	ENSP00000465019.1:p.Gly79Ser
NM_005022.3:c.343G>A	NP_005013.1:p.Gly115Ser
XM_017024761.1:c.*427G>A	XP_016880250.1:n.*427G>A
NM_001375991.1:c.*427G>A	NP_001362920.1:n.*427G>A
NM_005022.4:c.343G>A MANE Select	NP_005013.1:p.Gly115Ser