Canonical Allele Identifier: CA340430
Gene: FBLN5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5475
ClinVar RCV Id: RCV000005809
dbSNP Id: rs28939370

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91887253A>G , CM000676.2:g.91887253A>G GRCh38
NC_000014.8:g.92353597A>G , CM000676.1:g.92353597A>G GRCh37
NC_000014.7:g.91423350A>G NCBI36
NG_008254.1:g.65450T>C , LRG_364:g.65450T>C

Transcript Alleles

HGVS Amino-acid change
NM_006329.3:c.679T>C , LRG_364t1:c.679T>C NP_006320.2:p.Ser227Pro
XM_005267267.3:c.730T>C XP_005267324.1:p.Ser244Pro
XM_011536356.1:c.730T>C XP_011534658.1:p.Ser244Pro
XM_011536357.1:c.679T>C XP_011534659.1:p.Ser227Pro
XM_011536358.1:c.511T>C XP_011534660.1:p.Ser171Pro
XM_011536357.2:c.679T>C XP_011534659.1:p.Ser227Pro
XM_011536358.2:c.511T>C XP_011534660.1:p.Ser171Pro
XM_017020929.2:c.511T>C XP_016876418.1:p.Ser171Pro
ENST00000267620.14:c.802T>C ENSP00000267620.10:p.Ser268Pro
ENST00000342058.8:c.679T>C ENSP00000345008.4:p.Ser227Pro
ENST00000556154.5:c.694T>C ENSP00000451982.1:p.Ser232Pro