Canonical Allele Identifier: CA397338137

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849224C>T (hg19) ; chr17:g.4945929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945929C>T , CM000679.2:g.4945929C>T	GRCh38
NC_000017.10:g.4849224C>T , CM000679.1:g.4849224C>T	GRCh37
NC_000017.9:g.4789969C>T	NCBI36
NG_012063.2:g.4839C>T
NG_032945.1:g.8158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.394G>A MANE Select	ENSP00000225655.5:p.Ala132Thr
ENST00000225655.5:c.394G>A	ENSP00000225655.5:p.Ala132Thr
ENST00000574872.1:c.286G>A	ENSP00000465019.1:p.Ala96Thr
NM_005022.3:c.394G>A	NP_005013.1:p.Ala132Thr
XM_017024761.1:c.*478G>A	XP_016880250.1:n.*478G>A
NM_001375991.1:c.*478G>A	NP_001362920.1:n.*478G>A
NM_005022.4:c.394G>A MANE Select	NP_005013.1:p.Ala132Thr