Canonical Allele Identifier: CA497546886

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849222G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945927G>T , CM000679.2:g.4945927G>T	GRCh38
NC_000017.10:g.4849222G>T , CM000679.1:g.4849222G>T	GRCh37
NC_000017.9:g.4789967G>T	NCBI36
NG_012063.2:g.4837G>T
NG_032945.1:g.8160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.396C>A MANE Select	ENSP00000225655.5:p.Ala132=
ENST00000225655.5:c.396C>A	ENSP00000225655.5:p.Ala132=
ENST00000574872.1:c.288C>A	ENSP00000465019.1:p.Ala96=
NM_005022.3:c.396C>A	NP_005013.1:p.Ala132=
XM_017024761.1:c.*480C>A	XP_016880250.1:n.*480C>A
NM_001375991.1:c.*480C>A	NP_001362920.1:n.*480C>A
NM_005022.4:c.396C>A MANE Select	NP_005013.1:p.Ala132=