Canonical Allele Identifier: CA397338408

Gene: PFN1

Linked Data

• gnomAD v4: 17-4945997-G-T
• MyVariant Identifiers: chr17:g.4849292G>T (hg19) ; chr17:g.4945997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945997G>T , CM000679.2:g.4945997G>T	GRCh38
NC_000017.10:g.4849292G>T , CM000679.1:g.4849292G>T	GRCh37
NC_000017.9:g.4790037G>T	NCBI36
NG_012063.2:g.4907G>T
NG_032945.1:g.8090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.326C>A MANE Select	ENSP00000225655.5:p.Thr109Lys
ENST00000225655.5:c.326C>A	ENSP00000225655.5:p.Thr109Lys
ENST00000574872.1:c.218C>A	ENSP00000465019.1:p.Thr73Lys
NM_005022.3:c.326C>A	NP_005013.1:p.Thr109Lys
XM_017024761.1:c.*410C>A	XP_016880250.1:n.*410C>A
NM_001375991.1:c.*410C>A	NP_001362920.1:n.*410C>A
NM_005022.4:c.326C>A MANE Select	NP_005013.1:p.Thr109Lys