Canonical Allele Identifier: CA340430
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5475
ClinVar RCV Id: RCV000005809 RCV003447068
dbSNP Id: rs28939370
MyVariant Identifiers: chr14:g.92353597A>G (hg19) chr14:g.91887253A>G (hg38)
PubMed: PMID:3232707 PMID:12189163 PMID:17035250 PMID:20301756
JSON-LD

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
ENST00000557088.6:c.*645T>C ENSP00000451002.1:n.*645T>C
ENST00000557570.2:c.511T>C ENSP00000450787.2:p.Ser171Pro
ENST00000706676.1:c.853T>C ENSP00000516492.1:p.Ser285Pro
ENST00000706677.1:c.679T>C ENSP00000516493.1:p.Ser227Pro
ENST00000706678.1:n.599T>C
ENST00000706679.1:c.511T>C ENSP00000516494.1:p.Ser171Pro
ENST00000706680.1:c.*522T>C ENSP00000516495.1:n.*522T>C
ENST00000706681.1:c.*418T>C ENSP00000516496.1:n.*418T>C
ENST00000342058.9:c.679T>C MANE Select ENSP00000345008.4:p.Ser227Pro
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
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
NM_001384158.1:c.802T>C NP_001371087.1:p.Ser268Pro
NM_001384159.1:c.730T>C NP_001371088.1:p.Ser244Pro
NM_001384160.1:c.679T>C NP_001371089.1:p.Ser227Pro
NM_001384161.1:c.511T>C NP_001371090.1:p.Ser171Pro
NM_001384162.1:c.511T>C NP_001371091.1:p.Ser171Pro
NM_006329.4:c.679T>C MANE Select NP_006320.2:p.Ser227Pro
Search 100 bp 5'
Search 100 bp 3'