Canonical Allele Identifier: CA397338202

Gene: PFN1

Linked Data

• MyVariant Identifiers: chr17:g.4849238T>A (hg19) ; chr17:g.4945943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4945943T>A , CM000679.2:g.4945943T>A	GRCh38
NC_000017.10:g.4849238T>A , CM000679.1:g.4849238T>A	GRCh37
NC_000017.9:g.4789983T>A	NCBI36
NG_012063.2:g.4853T>A
NG_032945.1:g.8144A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225655.6:c.380A>T MANE Select	ENSP00000225655.5:p.Lys127Ile
ENST00000225655.5:c.380A>T	ENSP00000225655.5:p.Lys127Ile
ENST00000574872.1:c.272A>T	ENSP00000465019.1:p.Lys91Ile
NM_005022.3:c.380A>T	NP_005013.1:p.Lys127Ile
XM_017024761.1:c.*464A>T	XP_016880250.1:n.*464A>T
NM_001375991.1:c.*464A>T	NP_001362920.1:n.*464A>T
NM_005022.4:c.380A>T MANE Select	NP_005013.1:p.Lys127Ile