Canonical Allele Identifier: CA497546901

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849261G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945966G>A , CM000679.2:g.4945966G>A	GRCh38
NC_000017.10:g.4849261G>A , CM000679.1:g.4849261G>A	GRCh37
NC_000017.9:g.4790006G>A	NCBI36
NG_012063.2:g.4876G>A
NG_032945.1:g.8121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.357C>T MANE Select	ENSP00000225655.5:p.Val119=
ENST00000225655.5:c.357C>T	ENSP00000225655.5:p.Val119=
ENST00000574872.1:c.249C>T	ENSP00000465019.1:p.Val83=
NM_005022.3:c.357C>T	NP_005013.1:p.Val119=
XM_017024761.1:c.*441C>T	XP_016880250.1:n.*441C>T
NM_001375991.1:c.*441C>T	NP_001362920.1:n.*441C>T
NM_005022.4:c.357C>T MANE Select	NP_005013.1:p.Val119=