Canonical Allele Identifier: CA7312771
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 636427
ClinVar RCV Id: RCV000788255
dbSNP Id: rs147365284

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91887286G>C , CM000676.2:g.91887286G>C GRCh38
NC_000014.8:g.92353630G>C , CM000676.1:g.92353630G>C GRCh37
NC_000014.7:g.91423383G>C NCBI36
NG_008254.1:g.65417C>G , LRG_364:g.65417C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000557088.6:c.*612C>G ENSP00000451002.1:n.*612C>G
ENST00000557570.2:c.478C>G ENSP00000450787.2:p.Pro160Ala
ENST00000706676.1:c.820C>G ENSP00000516492.1:p.Pro274Ala
ENST00000706677.1:c.646C>G ENSP00000516493.1:p.Pro216Ala
ENST00000706678.1:n.566C>G
ENST00000706679.1:c.478C>G ENSP00000516494.1:p.Pro160Ala
ENST00000706680.1:c.*489C>G ENSP00000516495.1:n.*489C>G
ENST00000706681.1:c.*385C>G ENSP00000516496.1:n.*385C>G
ENST00000342058.9:c.646C>G MANE Select ENSP00000345008.4:p.Pro216Ala
ENST00000267620.14:c.769C>G ENSP00000267620.10:p.Pro257Ala
ENST00000342058.8:c.646C>G ENSP00000345008.4:p.Pro216Ala
ENST00000556154.5:c.661C>G ENSP00000451982.1:p.Pro221Ala
NM_006329.3:c.646C>G , LRG_364t1:c.646C>G NP_006320.2:p.Pro216Ala
XM_005267267.3:c.697C>G XP_005267324.1:p.Pro233Ala
XM_011536356.1:c.697C>G XP_011534658.1:p.Pro233Ala
XM_011536357.1:c.646C>G XP_011534659.1:p.Pro216Ala
XM_011536358.1:c.478C>G XP_011534660.1:p.Pro160Ala
XM_011536357.2:c.646C>G XP_011534659.1:p.Pro216Ala
XM_011536358.2:c.478C>G XP_011534660.1:p.Pro160Ala
XM_017020929.2:c.478C>G XP_016876418.1:p.Pro160Ala
NM_001384158.1:c.769C>G NP_001371087.1:p.Pro257Ala
NM_001384159.1:c.697C>G NP_001371088.1:p.Pro233Ala
NM_001384160.1:c.646C>G NP_001371089.1:p.Pro216Ala
NM_001384161.1:c.478C>G NP_001371090.1:p.Pro160Ala
NM_001384162.1:c.478C>G NP_001371091.1:p.Pro160Ala
NM_006329.4:c.646C>G MANE Select NP_006320.2:p.Pro216Ala