Canonical Allele Identifier: CA497546894

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849249C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945954C>T , CM000679.2:g.4945954C>T	GRCh38
NC_000017.10:g.4849249C>T , CM000679.1:g.4849249C>T	GRCh37
NC_000017.9:g.4789994C>T	NCBI36
NG_012063.2:g.4864C>T
NG_032945.1:g.8133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.369G>A MANE Select	ENSP00000225655.5:p.Leu123=
ENST00000225655.5:c.369G>A	ENSP00000225655.5:p.Leu123=
ENST00000574872.1:c.261G>A	ENSP00000465019.1:p.Leu87=
NM_005022.3:c.369G>A	NP_005013.1:p.Leu123=
XM_017024761.1:c.*453G>A	XP_016880250.1:n.*453G>A
NM_001375991.1:c.*453G>A	NP_001362920.1:n.*453G>A
NM_005022.4:c.369G>A MANE Select	NP_005013.1:p.Leu123=