Canonical Allele Identifier: CA397338189

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849235C>T (hg19) ; chr17:g.4945940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945940C>T , CM000679.2:g.4945940C>T	GRCh38
NC_000017.10:g.4849235C>T , CM000679.1:g.4849235C>T	GRCh37
NC_000017.9:g.4789980C>T	NCBI36
NG_012063.2:g.4850C>T
NG_032945.1:g.8147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.383G>A MANE Select	ENSP00000225655.5:p.Cys128Tyr
ENST00000225655.5:c.383G>A	ENSP00000225655.5:p.Cys128Tyr
ENST00000574872.1:c.275G>A	ENSP00000465019.1:p.Cys92Tyr
NM_005022.3:c.383G>A	NP_005013.1:p.Cys128Tyr
XM_017024761.1:c.*467G>A	XP_016880250.1:n.*467G>A
NM_001375991.1:c.*467G>A	NP_001362920.1:n.*467G>A
NM_005022.4:c.383G>A MANE Select	NP_005013.1:p.Cys128Tyr