Canonical Allele Identifier: CA397338147

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849226A>T (hg19) ; chr17:g.4945931A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945931A>T , CM000679.2:g.4945931A>T	GRCh38
NC_000017.10:g.4849226A>T , CM000679.1:g.4849226A>T	GRCh37
NC_000017.9:g.4789971A>T	NCBI36
NG_012063.2:g.4841A>T
NG_032945.1:g.8156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.392T>A MANE Select	ENSP00000225655.5:p.Met131Lys
ENST00000225655.5:c.392T>A	ENSP00000225655.5:p.Met131Lys
ENST00000574872.1:c.284T>A	ENSP00000465019.1:p.Met95Lys
NM_005022.3:c.392T>A	NP_005013.1:p.Met131Lys
XM_017024761.1:c.*476T>A	XP_016880250.1:n.*476T>A
NM_001375991.1:c.*476T>A	NP_001362920.1:n.*476T>A
NM_005022.4:c.392T>A MANE Select	NP_005013.1:p.Met131Lys