Canonical Allele Identifier: CA397338168

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849231A>C (hg19) ; chr17:g.4945936A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945936A>C , CM000679.2:g.4945936A>C	GRCh38
NC_000017.10:g.4849231A>C , CM000679.1:g.4849231A>C	GRCh37
NC_000017.9:g.4789976A>C	NCBI36
NG_012063.2:g.4846A>C
NG_032945.1:g.8151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.387T>G MANE Select	ENSP00000225655.5:p.Tyr129Ter
ENST00000225655.5:c.387T>G	ENSP00000225655.5:p.Tyr129Ter
ENST00000574872.1:c.279T>G	ENSP00000465019.1:p.Tyr93Ter
NM_005022.3:c.387T>G	NP_005013.1:p.Tyr129Ter
XM_017024761.1:c.*471T>G	XP_016880250.1:n.*471T>G
NM_001375991.1:c.*471T>G	NP_001362920.1:n.*471T>G
NM_005022.4:c.387T>G MANE Select	NP_005013.1:p.Tyr129Ter