Canonical Allele Identifier: CA397338279

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849256C>T (hg19) ; chr17:g.4945961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945961C>T , CM000679.2:g.4945961C>T	GRCh38
NC_000017.10:g.4849256C>T , CM000679.1:g.4849256C>T	GRCh37
NC_000017.9:g.4790001C>T	NCBI36
NG_012063.2:g.4871C>T
NG_032945.1:g.8126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.362G>A MANE Select	ENSP00000225655.5:p.Gly121Asp
ENST00000225655.5:c.362G>A	ENSP00000225655.5:p.Gly121Asp
ENST00000574872.1:c.254G>A	ENSP00000465019.1:p.Gly85Asp
NM_005022.3:c.362G>A	NP_005013.1:p.Gly121Asp
XM_017024761.1:c.*446G>A	XP_016880250.1:n.*446G>A
NM_001375991.1:c.*446G>A	NP_001362920.1:n.*446G>A
NM_005022.4:c.362G>A MANE Select	NP_005013.1:p.Gly121Asp