Canonical Allele Identifier: CA390642659

Gene: FBLN5

Linked Data

• COSMIC: COSM4504989
• MyVariant Identifiers: chr14:g.92353596G>A (hg19) ; chr14:g.91887252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887252G>A , CM000676.2:g.91887252G>A	GRCh38
NC_000014.8:g.92353596G>A , CM000676.1:g.92353596G>A	GRCh37
NC_000014.7:g.91423349G>A	NCBI36
NG_008254.1:g.65451C>T , LRG_364:g.65451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*646C>T	ENSP00000451002.1:n.*646C>T
ENST00000557570.2:c.512C>T	ENSP00000450787.2:p.Ser171Phe
ENST00000706676.1:c.854C>T	ENSP00000516492.1:p.Ser285Phe
ENST00000706677.1:c.680C>T	ENSP00000516493.1:p.Ser227Phe
ENST00000706678.1:n.600C>T
ENST00000706679.1:c.512C>T	ENSP00000516494.1:p.Ser171Phe
ENST00000706680.1:c.*523C>T	ENSP00000516495.1:n.*523C>T
ENST00000706681.1:c.*419C>T	ENSP00000516496.1:n.*419C>T
ENST00000342058.9:c.680C>T MANE Select	ENSP00000345008.4:p.Ser227Phe
ENST00000267620.14:c.803C>T	ENSP00000267620.10:p.Ser268Phe
ENST00000342058.8:c.680C>T	ENSP00000345008.4:p.Ser227Phe
ENST00000556154.5:c.695C>T	ENSP00000451982.1:p.Ser232Phe
NM_006329.3:c.680C>T , LRG_364t1:c.680C>T	NP_006320.2:p.Ser227Phe
XM_005267267.3:c.731C>T	XP_005267324.1:p.Ser244Phe
XM_011536356.1:c.731C>T	XP_011534658.1:p.Ser244Phe
XM_011536357.1:c.680C>T	XP_011534659.1:p.Ser227Phe
XM_011536358.1:c.512C>T	XP_011534660.1:p.Ser171Phe
XM_011536357.2:c.680C>T	XP_011534659.1:p.Ser227Phe
XM_011536358.2:c.512C>T	XP_011534660.1:p.Ser171Phe
XM_017020929.2:c.512C>T	XP_016876418.1:p.Ser171Phe
NM_001384158.1:c.803C>T	NP_001371087.1:p.Ser268Phe
NM_001384159.1:c.731C>T	NP_001371088.1:p.Ser244Phe
NM_001384160.1:c.680C>T	NP_001371089.1:p.Ser227Phe
NM_001384161.1:c.512C>T	NP_001371090.1:p.Ser171Phe
NM_001384162.1:c.512C>T	NP_001371091.1:p.Ser171Phe
NM_006329.4:c.680C>T MANE Select	NP_006320.2:p.Ser227Phe