Canonical Allele Identifier: CA390641031

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343994C>A (hg19) ; chr14:g.91877650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877650C>A , CM000676.2:g.91877650C>A	GRCh38
NC_000014.8:g.92343994C>A , CM000676.1:g.92343994C>A	GRCh37
NC_000014.7:g.91413747C>A	NCBI36
NG_008254.1:g.75053G>T , LRG_364:g.75053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*988G>T	ENSP00000451002.1:n.*988G>T
ENST00000557570.2:c.854G>T	ENSP00000450787.2:p.Cys285Phe
ENST00000706675.1:n.837G>T
ENST00000706676.1:c.1196G>T	ENSP00000516492.1:p.Cys399Phe
ENST00000706677.1:c.1022G>T	ENSP00000516493.1:p.Cys341Phe
ENST00000706678.1:n.942G>T
ENST00000706679.1:c.854G>T	ENSP00000516494.1:p.Cys285Phe
ENST00000706680.1:c.*865G>T	ENSP00000516495.1:n.*865G>T
ENST00000706681.1:c.*761G>T	ENSP00000516496.1:n.*761G>T
ENST00000342058.9:c.1022G>T MANE Select	ENSP00000345008.4:p.Cys341Phe
ENST00000267620.14:c.1145G>T	ENSP00000267620.10:p.Cys382Phe
ENST00000342058.8:c.1022G>T	ENSP00000345008.4:p.Cys341Phe
ENST00000554121.2:n.148G>T
ENST00000556154.5:c.1037G>T	ENSP00000451982.1:p.Cys346Phe
NM_006329.3:c.1022G>T , LRG_364t1:c.1022G>T	NP_006320.2:p.Cys341Phe
XM_005267267.3:c.1073G>T	XP_005267324.1:p.Cys358Phe
XM_011536356.1:c.1073G>T	XP_011534658.1:p.Cys358Phe
XM_011536357.1:c.1022G>T	XP_011534659.1:p.Cys341Phe
XM_011536358.1:c.854G>T	XP_011534660.1:p.Cys285Phe
XM_011536357.2:c.1022G>T	XP_011534659.1:p.Cys341Phe
XM_011536358.2:c.854G>T	XP_011534660.1:p.Cys285Phe
XM_017020929.2:c.854G>T	XP_016876418.1:p.Cys285Phe
NM_001384158.1:c.1145G>T	NP_001371087.1:p.Cys382Phe
NM_001384159.1:c.1073G>T	NP_001371088.1:p.Cys358Phe
NM_001384160.1:c.1022G>T	NP_001371089.1:p.Cys341Phe
NM_001384161.1:c.854G>T	NP_001371090.1:p.Cys285Phe
NM_001384162.1:c.854G>T	NP_001371091.1:p.Cys285Phe
NM_006329.4:c.1022G>T MANE Select	NP_006320.2:p.Cys341Phe